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European Journal of Human Genetics · 2010 · article 122617349 · 10.1038/ejhg.2010.181
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2026-05-12 06:48 |
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Clinical Genetics 2024 |
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| ["TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands"] article 50810496 |
The American Journal of Human Genetics 2019 |
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2026-05-21 17:02 |
| ["Issue Information"] article 52014973 |
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2026-05-30 17:03 |
| ["From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with <i>PNKP</i> gene mutations"] article 53069958 |
American Journal of Medical Genetics Part A 2019 |
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processed caucasian, european, other |
2026-05-21 17:02 |
| ["Homozygous/compound heterozygote <i>RYR1</i> gene variants: Expanding the clinical spectrum"] article 58669961 |
American Journal of Medical Genetics Part A 2019 |
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2026-05-24 17:02 |
| ["Phenotype expansion and development in Kosaki overgrowth syndrome"] article 68822451 |
Clinical Genetics 2018 |
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2026-05-24 17:02 |
| ["A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein"] article 69575021 |
Human Mutation 2017 |
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2026-05-24 17:02 |
| ["A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges"] article 71982932 |
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2026-05-21 17:02 |
| ["Pedigree Selection and Tests of Linkage in a Hutterite Asthma Pedigree"] article 72064990 |
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2026-05-21 17:03 |
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2026-05-24 17:02 |
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Clinical Genetics 2017 |
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2026-05-21 17:03 |
| ["How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study"] article 77825161 |
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2026-05-24 17:01 |
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Human Genetics 2016 |
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Human Genetics 2016 |
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| ["Put Yourself at the Helm: Charting New Territory, Correcting Course, and Weathering the Storm of Career Trajectories"] article 84346901 |
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| ["Sex‐specific association of a common variant of the XG gene with autism spectrum disorders"] article 101795156 |
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2026-05-22 17:03 |
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2026-05-23 17:02 |
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2026-05-23 17:02 |
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2026-05-23 17:02 |
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2026-05-23 17:03 |
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Clinical Genetics 1990 |
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Clinical Genetics 1987 |
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2026-05-24 17:03 |
| ["Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis"] article 125394052 |
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2026-05-25 17:01 |
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2026-05-25 17:01 |
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| ["A 48,XXXX female"] article 134036285 |
Journal of Medical Genetics 1974 |
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| ["Medical genetics in Romania."] article 134036770 |
Journal of Medical Genetics 1990 |
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2026-05-25 17:02 |
| ["Cytoenzymology and Isozymes of Cultured Cells"] article 134042107 |
Journal of Medical Genetics 1972 |
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| ["Chromosome Studies on Adults"] article 134048083 |
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| ["Fundamentals of Molecular Evolution (2nd edn)"] article 134702105 |
Heredity 2000 |
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| ["Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient"] article 135415011 |
American Journal of Medical Genetics Part A 2008 |
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| ["Species crosses in Antirrhinum"] article 136572523 |
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| ["Reviews"] article 136577650 |
Heredity 1959 |
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| ["Reviews"] article 136577770 |
Heredity 1962 |
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| ["Evolutionary studies on Maniola jurtina: the Isles of Scilly, 1958–59"] article 136577832 |
Heredity 1964 |
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| ["The detection and estimation of heritable differences in behaviour among individuals"] article 136577858 |
Heredity 1965 |
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2026-05-26 17:02 |
| ["The Finland–United States Investigation of Non–Insulin‐Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes‐Related Quantitative‐Trait Loci"] article 138723016 |
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2026-05-26 17:02 |
| ["Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis"] article 139415207 |
American Journal of Medical Genetics Part A 2007 |
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2026-05-26 17:02 |
| ["<i>EFHC2</i> SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome"] article 139520388 |
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008 |
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2026-05-26 17:02 |
| ["Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation"] article 147014971 |
American Journal of Medical Genetics Part A 2006 |
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2026-05-26 17:02 |
| ["Is Self‐Disclosure Part of the Genetic Counselor's Clinical Role?"] article 148175232 |
Journal of Genetic Counseling 2006 |
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| ["Glutamate AMPA receptor subunit 1 gene (<i>GRIA1</i>) and DSM‐IV‐TR schizophrenia: A pilot case‐control association study in an Italian sample"] article 150460033 |
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2006 |
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| ["NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review"] article 150688716 |
Genetics in Medicine 2006 |
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| ["WRN mutations in Werner syndrome"] article 157296453 |
Human Mutation 1999 |
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| ["Terminal deletion of the long arm of chromosome 1 in a malformed newborn"] article 157866499 |
Human Genetics 1978 |
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| ["Regional chromosomal assignment of the human glucocorticoid receptor gene to 5q31"] article 157870484 |
Human Genetics 1989 |
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| ["Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males"] article 157992433 |
Human Genetics 1986 |
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| ["Zur Frage der Verteilung der ABO-Blutgruppen bei an Scharlach erkrankten Kindern"] article 157992501 |
Human Genetics 1969 |
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| ["TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the risk of coronary heart disease: The PRIME Study"] article 158013462 |
European Journal of Human Genetics 2004 |
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| ["The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme"] article 158115557 |
Human Genetics 1995 |
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| ["BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing"] article 158139191 |
Journal of Medical Genetics 2004 |
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| ["Human Male Recombination Maps for Individual Chromosomes"] article 160171144 |
The American Journal of Human Genetics 2004 |
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| ["<i>Book Review</i><b>Structural Fetal Abnormalities: The Total Picture.</b> Edited by Roger C. Sanders. Mosby‐Year Book, St. Louis, Missouri, 1996, 284 pp., $59.00 paperback"] article 161909848 |
Journal of Genetic Counseling 1997 |
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| ["SPINK1 mutations predispose to chronic pancreatitis"] article 161994508 |
Journal of Medical Genetics 2003 |
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| ["Transcription factors in dysmorphology"] article 164005009 |
Clinical Genetics 1999 |
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| ["Evidence for locus heterogeneity in the Camurati–Engelmann (DPD1) Syndrome"] article 164025036 |
Clinical Genetics 2001 |
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2026-05-28 17:02 |
| ["Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR"] article 164336141 |
Human Genetics 2001 |
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| ["Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients"] article 166610778 |
European Journal of Human Genetics 2002 |
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| ["Protein Evolution"] article 167166948 |
Heredity 1999 |
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| ["Genetic studies of the leptin receptor gene in morbidly obese French Caucasian families"] article 167508104 |
Human Genetics 1997 |
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| ["CDKN2A (p16INK4A) somatic and germline mutations"] article 167520262 |
Human Mutation 1996 |
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| ["Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I"] article 167576610 |
Human Mutation 2001 |
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2026-05-28 17:02 |
| ["Optimal allele‐sharing statistics for genetic mapping using affected relatives"] article 167590965 |
Genetic Epidemiology 1999 |
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2026-05-28 17:02 |
| ["Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene"] article 167728045 |
Human Genetics 1998 |
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| ["SEL1L , the human homolog of C. elegans sel-1 : refined physical mapping, gene structure and identification of polymorphic markers"] article 167763326 |
Human Genetics 2000 |
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2026-05-30 17:03 |
| ["Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations"] article 173214479 |
Genetics in Medicine 2023 |
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2026-05-29 17:02 |
| ["Reply to Kosaki et al."] article 179617799 |
The American Journal of Human Genetics 2001 |
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| ["Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics"] article 181994093 |
Genetics in Medicine 2023 |
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2026-05-29 17:02 |
| ["CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements"] article 184315977 |
Human Genomics 2022 |
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| ["Issue Information"] article 185803759 |
Genetic Epidemiology 2022 |
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| ["Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of <scp><i>TLL1</i></scp> as a causative gene for atrial septal defect"] article 189298717 |
American Journal of Medical Genetics Part A 2022 |
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| ["A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA"] article 190282997 |
The American Journal of Human Genetics 1998 |
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| ["Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach"] article 190444260 |
Genetics in Medicine 2022 |
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| ["eP063: Genetic variants associated with childhood cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce"] article 191084524 |
Genetics in Medicine 2022 |
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| ["An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes"] article 194419519 |
Genetics in Medicine 2022 |
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Genetics in Medicine 2021 |
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| ["Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders"] article 201873713 |
American Journal of Medical Genetics Part A 2021 |
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