| Genetic modification of the human mitotic clock by telomerase: a matter of life and death |
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| Errata |
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| Errata |
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| Improvements in adenoviral vector technology: overcoming barriers for gene therapy |
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| Genetic variants of <i>NRAMP1</i> and active tuberculosis in Japanese populations |
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| A novel mutation (296 del G) of the <i>SOX9</i> gene in a patient with campomelic syndrome and sex reversal |
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| Ventricular septal defect associated with microdeletions of chromosome 22q11.2 |
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| Assessment of education and counselling offered by a familial colorectal cancer clinic |
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| Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr<sub>302</sub>>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL<sub>Olbia</sub>) |
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✓ |
✓ |
Italian family from Sardinia; Sardinians |
| Hypogonadotrophic hypogonadism in Roifman syndrome |
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| Hereditary colorectal cancer: risk assessment and management |
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| Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation |
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| Intrachromosomal triplications: molecular cytogenetic and clinical studies |
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| Mild clinical phenotype associated with R1158X/S549R(T→G) CFTR genotype |
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| Parental and meiotic origin of triploidy in the embryonic and fetal periods |
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| Optimization of the fluorescence <i>in situ</i> hybridization (FISH) technique for high detection efficiency of very small proportions of target interphase nuclei |
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| Linkage and candidate gene analysis of autosomal‐dominant familial exudative vitreoretinopathy |
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| Clitoris and labia minora agenesis – an undescribed malformation |
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| Huntington's disease on a GeneChip |
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| An unaffected individual from a breast/ovarian cancer family with germline mutations in both <i>BRCA1</i> and <i>BRCA2</i> |
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✓ |
✓ |
Ashkenazi Jewish; referred to as an 'ethnic group' |
| Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy |
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| Physical activity: good for your health, very good for your gene expression |
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| Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping |
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| Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel ‘hot spot’ in codon 47 |
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| Apolipoprotein B‐100 gene <i>Xba I</i> polymorphism and cholesterol gallstone disease |
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| Oligonucleotide microarrays bring new insights to old mice |
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| Mutations of<i>GJB2</i>in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates |
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| Vertebral anomalies in a new family with ODED syndrome |
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| Pseudoxanthoma elasticum arises from mutations in an ABC transporter family member, <i>ABCC6</i> |
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| A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center |
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| Factors influencing sib risks for Multiple Sclerosis |
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| The molecular regulation of myogenesis |
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| ‘Novel’ immunodeficiency syndrome may be a previously described entity |
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| Differentiation of Ambras syndrome from Hypertrichosis Universalis |
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| Rett syndrome: The influence of dysregulated gene slicing |
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| Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders |
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| A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY |
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| Genetic landmarks through philately – Jean Martin Charcot (1825–1893) and Charcot–Marie–Tooth disease |
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| Genetic landmarks through philately – Thomas Hunt Morgan (1866–1945) |
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| Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis |
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| Genetic homogeneity of the Camurati–Engelmann disease |
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| What we have learned from the DNA sequences of human chromosomes 21 and 22 |
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| Identification of four novel mutations in five unrelated Korean families with Fabry disease |
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| Repairing the genomic defect in muscular dystrophy |
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| Caspases and neurodegeneration: on the cutting edge of new therapeutic approaches |
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| Support for linkage of familial combined hyperlipidemia to chromosome 1q21–q23 in Chinese and German families |
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✓ |
✓ |
German; Chinese |
| Comparison of the role of dopamine, serotonin, and noradrenaline genes in ADHD, ODD and conduct disorder: multivariate regression analysis of 20 genes |
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✓ |
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| The molecular basis for developmental disorders of the pituitary gland in man |
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| Mild phenotype in two siblings with distal monosomy 12p13.31→pter |
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| Multivariate analysis of associations of 42 genes in ADHD, ODD and conduct disorder |
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| Increased urolithiasis in patients with alkaptonuria in childhood |
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| Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ‘hidden’ mosaicism |
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| Single nucleotide polymorphisms and the future of genetic epidemiology |
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| A retrospective study of long‐term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria |
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| Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic |
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| Identification and characterization of ‐3c–g acceptor splice site mutation in human α‐ <scp>l</scp>‐iduronidase associated with mucopolysaccharidosis type IH/S |
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✓ |
✓ |
Chinese |
| Involvement of an inflammation‐related gene in X‐linked mental retardation |
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| Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa |
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| The causes and consequences of random and non‐random X chromosome inactivation in humans |
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| Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (ΔVal 122) presenting with carpal tunnel syndrome |
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| Exclusion of chromosome 15q21.1 in autosomal‐recessive Weill–Marchesani syndrome in an inbred Lebanese family |
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| Impact of age and body size on inter‐individual variation in measures of lipid metabolism: influence of gender and <i>apolipoprotein E</i> genotype |
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| Down syndrome: genetic recombination and the origin of the extra chromosome 21 |
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| The X‐linked IAP gene does not contribute to the clinical phenotype of spinal muscular atrophy |
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| A rapid fluorescent multiplexed‐PCR analysis (FMPA) for founder mutations in the <i>BRCA</i>1 and <i>BRCA</i>2 genes |
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✓ |
✓ |
Ashkenazi Jewish; French-Canadian |
| Polydactyly in 22q11 syndrome: should it be taken into account? |
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| Trends in the frequencies of consanguineous marriages in the Israeli Arab community |
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| Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13) |
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| No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation |
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| Familial t(6;21)(p21.1;p13) translocation associated with male‐only sterility |
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| Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia |
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| Spina bifida and common mutations at the homocysteine metabolism pathway |
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| MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis? |
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| Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations |
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| Telomere‐telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2→p15.1: phenotypic consequences and possible mechanisms |
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| Polymorphisms of human <i>SP‐A</i>, <i>SP‐B</i>, and <i>SP‐D</i> genes: association of <i>SP‐B</i> Thr131Ile with ARDS |
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| Mutational analysis and genotype/phenotype correlation in Turkish Charcot–Marie–Tooth Type 1 and HNPP patients |
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| The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation |
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| Hallowed beginning |
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| Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in <i>KCNH2</i> |
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| Breaking the law: the molecular basis of non‐Mendelian transmission |
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| Molecular analysis of the 5′‐flanking region of the neurofibromatosis type 1 (<i>NF1</i>) gene: identification of five sequence variants |
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| Identification of cystic fibrosis mutations in Oman |
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| Genetic landmarks through philately – Karl Landsteiner: the father of blood grouping |
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| Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction |
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| Genetic defects as recorded in the pottery of the Moche culture of Peru |
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| Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome |
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✓ |
✓ |
Bosnian |
| A novel mutation in the HEXA gene specific to Tay–Sachs disease carriers of Jewish Iraqi origin |
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|
|
✓ |
✓ |
✓ |
Eastern European (Ashkenazi); Iraqi Jews, Moroccan, Jewish Israeli, Ashkenazi, Jews of Iraqi descent |
| Expression profiling in cancer using gene chips |
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| Hemochromatosis in Galicia (NW Spain): a Celtic influence? |
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✓ |
|
Celtic |
| The comparison of anthropometric variables in mentally retarded boys with and without fragile X syndrome |
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| The vasculopathy of NF1 and histogenesis control genes |
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| An SRY‐negative XX male with Huriez syndrome |
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| The genetics of osteoporosis: ‘complexities and difficulties’ |
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| A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations |
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| Identification of four novel mutations of the low‐density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia |
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| Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15 |
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| Sisters homozygous for the spinocerebellar ataxia type 6 (<i>SCA6</i>)/<i>CACNA1A</i> gene associated with different clinical phenotypes |
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✓ |
✓ |
Japanese |
| Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism |
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|
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| Insights into the pathogenesis of neurofibromatosis 1 vasculopathy |
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| ‘New Age’ gene medicines for the 21st century |
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| Genetic landmarks through philately – Crick, Watson and Wilkins: the scientists behind DNA structure |
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| A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction |
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| Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T‐lymphocytes |
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| Ambras syndrome or Hypertrichosis Universalis, does it really matter? |
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| A germline mutation at the extreme 3′ end of the <i>APC</i> gene results in a severe desmoid phenotype and is associated with overexpression of beta‐catenin in the desmoid tumor |
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|
|
✓ |
✓ |
French‐Canadian kindred |
| Relation between the insertion/deletion polymorphism in the gene coding for receptor associated protein (RAP) and plasma apolipoprotein AI (apoAI) and high‐density lipoprotein cholesterol (HDL) levels |
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| Identification of a novel frameshift β‐thalassemia mutation in an Asian Indian |
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| Improved classification of acute leukemias using oligonucleotide microarrays |
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|
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| Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2 |
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|
|
✓ |
✓ |
Ashkenazi Jewish; Ashkenazi women; Jewish |
| Sporadic cardiac and skeletal myopathy caused by a <i>de novo</i> desmin mutation |
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| Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri–Weill dyschondrosteosis |
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| Psychomotor development in Cri du Chat Syndrome |
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| Altering the pathway to human gene therapy |
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| Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and <i>de novo</i> mutations in Duchenne muscular dystrophy |
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|
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| Angiotensin II type 1 receptor gene polymorphism is associated with the severity but not prevalence of coronary artery disease |
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| Low density lipoprotein receptor‐related protein gene polymorphisms and risk for late‐onset Alzheimer's disease in a Japanese population |
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| A glutamine‐rich protein involved in Notch signalling |
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| Sudden death caused by pulmonary thromboembolism in Proteus syndrome |
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| The frequency of the C677T substitution in the methylenetetrahydrofolate reductase gene in Manitoba |
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| Influence of 699C→T and 1080C→T polymorphisms of the cystathionine β‐synthase gene on plasma homocysteine levels |
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| Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients |
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| Reply to the letter by Carpenter et al. ‘Novel’ immunodeficiency syndrome may be a previously described entity |
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|
|
| Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands |
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|
✓ |
✓ |
"different populations"; "population"; "in our country"; "geographic distribution"; "nation-wide gen |
| Affective disorders: susceptibility and drug efficacy may be determined by the serotonin transporter promoter polymorphism |
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| Mutated presenilins and Alzheimer's disease: the culprit could be calcium signaling |
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| Association of the R485K polymorphism of the Factor V gene with poor response to activated protein C and increased risk of coronary artery disease in the Chinese population |
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| Recent advances in the molecular basis of inherited photoreceptor degeneration |
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| Finding our SNPs using oligonucleotide microarrays |
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| Genetic testing, ethical concerns, and the role of patent law |
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| Maternally inherited hearing impairment |
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| Interacting proteins in yeast – a perfect marriage |
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| A genetic screen for suppression of polyglutamine induced toxicity in flies |
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|
|
| Novel deletional mutation of the <i>MEN1</i> gene in a kindred with multiple endocrine neoplasia type 1 |
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|
✓ |
✓ |
Japanese |
| Pfeiffer syndrome type 2 associated with a single amino acid deletion in the <i>PGFR2</i> gene |
|
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|
|
|
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|
|
|
| Low‐density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia |
|
|
|
|
|
✓ |
✓ |
✓ |
European families; Southeast Asian population / Southeast Asian origin |
| The clinical significance of fragile sites on human chromosomes |
|
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|
|
| Microbubbles used to ‘pop’ new gene into the heart |
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|
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| The incidence of cystic fibrosis (CF) mutations among patients from Croatia |
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|
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| Determination of the frequency of the 35delG allele in Brazilian neonates |
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|
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| The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis |
|
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|
|
✓ |
✓ |
Italian population |
| Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus |
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|
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| Mutations in a 10‐bp polyadenine repeat of transforming growth factor β‐receptor type II gene is an infrequent event in human epithelial ovarian cancer |
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|
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| Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation |
|
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|
|
| Gender‐specific effects of NAT2 and GSTM1 in bladder cancer |
|
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|
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| Neuronal migration defects of the cerebral cortex: a destination debacle |
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|
|
| United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington's disease |
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|
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| Predictive testing for familial adenomatous polyposis in a rural South Indian community |
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|
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| Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation |
|
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| The road less traveled: functional recovery from neurodegeneration |
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|
| How men view genetic testing for prostate cancer risk: findings from focus groups |
|
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|
|
✓ |
✓ |
ethnic |
| Analysis of genomic instability using multiple assays in a patient with Rothmund–Thomson syndrome |
|
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|
|
| Linkage exclusion and mutational analysis of the <i>noggin</i> gene in patients with fibrodysplasia ossificans progressiva (FOP) |
|
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|
|
| A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory |
|
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|
| An association between skewed X‐chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta |
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|
| Identification of a novel deletion of the entire <i>OCRL1</i> gene detected by FISH analysis in a family with Lowe syndrome |
|
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|
| Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis |
|
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|
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| Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype |
|
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|
|
| Genotype–phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery |
|
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| Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p |
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| Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling |
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| Benefit‐sharing and other protections for communities in genetic research |
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| Velo‐cardio‐facial phenotype and deletion of 22q11.2 in Hungarian children |
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✓ |
"Anglo-American populations", "Hungarian children", and the phrase "ethnic variability" |
| Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation |
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| Polymorphisms in the CAG repeat – a source of error in Huntington disease DNA testing |
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| Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and <i>SHH</i> and <i>HLXB9</i> haploinsufficiency |
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| Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis |
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| Familial Prader‐Willi syndrome: case report and a literature review |
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| Pedigree parables |
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| Collagens: building blocks at the end of the development line |
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| Ectodermal dysplasias: not only ‘skin’ deep |
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| The success of gene therapy in correcting the failings of advancing age |
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| Mouse models for human disease |
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| Cortical dysgenesis in 2 patients with chromosome 22q11 deletion |
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| Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca |
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✓ |
✓ |
✓ |
Northern European ancestry; Celtic origin |
| Shedding new light on the pathogenesis of familial Alzheimer disease |
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| Genetic landmarks through philately – Barbara McClintock |
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| Xolótl: god of monstrosities |
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| Aberrant SP‐B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP) |
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| Testing all possible protein–protein interactions in yeast |
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| A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome |
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| Segregation of a supernumerary del(15) marker chromosome in sperm |
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| Workshop on Primed <i>In Situ</i> Labeling (PRINS) |
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| British Human Genetics Conference |
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| Human Genome Variation: Linking Genotypes to Clinical Phenotypes |
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| Hugo Ethics Committee statement on benefit sharing |
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| Second International Meeting on Male‐Mediated Developmental Toxicity |
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| Fifth Annual Human Genome Meeting, April 9–12, 2000 |
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| The International Federation of Human Genetics Societies |
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