| Measuring the genetic contribution of a single locus to a multilocus disease |
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| Triploidy, partial mole and dispermy. An investigation of 12 cases |
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| Ethical and social aspects of risk predictions |
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| Chromosomal constitution of infertile men |
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| ESHG Symposium: Cancer and Genetics in 1984 Essen, 1–3 June, 1984 |
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| Polymorphism of the human Y chromosome: the evaluation of the correlation between the DNA content and the size of the heterochromatin and euchromatin* |
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| In vitro reversal of fragile‐X expression by exogenous thymidine |
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| Marker chromosomes in parents to children with Down's syndrome |
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| The syndromic status of sclerosteosis and van Buchem disease |
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✓ |
✓ |
The Afrikaners have Dutch antecedants; Afrikaner community of South Africa; Afrikaners |
| Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients |
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| Dermal changes in Ehlers‐Danlos syndrome |
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| Alpha‐1‐antitrypsin types and rheumatoid arthritis |
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| Renal agenesis as a diagnostic feature of the crypthophthalmos‐syndactyly syndrome |
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| Asymmetric skeletal anomalies in siblings |
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| Linkage of plasma α‐L‐fucosidase (FUCA2) and the plasminogen (PLG) system |
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✓ |
|
|
European populations |
| Cluster of acute infantile spinal muscular atrophy (Werdnig‐Hoffmann disease) in a limited area of Reunion Island |
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✓ |
|
|
European population of the island |
| Trisomy 9 (pter → q1 to q3): the phenotype as an objective aid to karyotypic interpretation |
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| Duplication in the proximal portion of the long arm of chromosome 15, in a girl without phenotypic features of the Prader‐Willi syndrome |
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| Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother |
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| Spontaneous abortions and facial clefts |
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| Germinal Mosaicism |
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| Craniofrontonasal dysplasia: Genetic heterogeneity? |
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| Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease |
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| Fragile 22q13 segregating in a family |
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| Combined sialidase (neuraminidase) and β‐galactosidase deficiency. Clinical, morphological and enzymological observations in a patient |
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✓ |
✓ |
Japanese origin |
| A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping |
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| Date of conception and prevention of neural tube defects |
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✓ |
✓ |
French Canadian population; ethnic groups identity |
| A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly |
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✓ |
✓ |
Sephardic Jewish |
| Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature |
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| Confirmation of F13A assignment and sequence information concerning F13A‐HLA‐GLO |
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✓ |
✓ |
Danish |
| Diagnosing of chromosome abnormalities in Denmark |
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| Oculocutaneous albinism and anterior chambre cleavage malformations |
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| Autosomal dominant lamellar ichthyosis: a new skin disorder* |
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| Maternal translocation t(13:18)(q34:q11) and Edwar's syndrome in a fetus: 47, XY, t(13:18)(q34:q11) + 18 |
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| Birth intervals in oral cleft families |
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| Comment on “Partial trisomy 11q…”, report by De France et al. (1984) |
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| Encephalo‐oculo‐cutaneous dysplasia |
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| Corrections |
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| Isochromosome 18q with karyotype 46, XX, i(18q). Cytogenetics and pathology |
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| Fetal mortality in sibships of cases with neural tube defects |
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| Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? |
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| Two fertile Turner women in a family |
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| Clinical delineation of proximal and distal partial 13q trisomy |
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| Low density lipoprotein receptors in cultured skin fibroblasts from psoriasis patients |
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| Anomalous cerebral venous drainage in Aarskog syndrome |
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| London School of Hygiene and Tropical Medicine Diploma in Human and Clinical Genetics |
|
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|
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| Fetal mortality in oral cleft families (<i>V):</i> studies of sporadic vs familial and pure vs syndromic clefts |
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| Autosomal recessive inheritance of juvenile periodontitis: test of a hypothesis |
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| Severe limb malformations in 4p deletion |
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|
|
| Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11) |
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| Isolated asternia: an independent entity |
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| Smith‐Lemli‐Opitz syndrome in two 46,XY infants with female external genitalia |
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| The Williams syndrome: objective definition and diagnosis |
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| Differential diagnosis of the Williams and the Noonan syndromes |
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| Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity |
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|
|
| Fragile sites and chromosome breakpoints in constitutional rearrangements II. Spontaneous abortions, stillbirths and newborns |
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|
|
| Ankylosing spondylitis is part of a multifactorial syndrome: hereditary multifocal relapsing inflammation (HEMRI) |
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|
| Cholesterol ester storage disease in an adult presenting with sea‐blue histiocytosis |
|
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|
| Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333) |
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|
|
| Distal trisomy 14q syndrome; a case report |
|
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|
|
| THIRD NORDIC CONFERENCE Pepsinogen and gastric cancer |
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|
|
| Autosomal recesslve ichthyosis in Norway: II. Sjøgren‐Larsson‐like ichthyosis without CNS or eye involvement |
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|
|
| Prader‐Willi syndrome in a child with a balanced (X;15) de novo translocation |
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|
| Alpers' disease |
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|
| Endocrine Genetics and Genetics of Growth |
|
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|
|
| Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity |
|
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|
|
| Causes of variation in birth weight: A study of offspring of twins |
|
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|
|
| Grebe chondrodysplasia and brachydactyly in a family |
|
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|
|
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|
|
| 46, X, i(Xq)/45, X mosaicism with gonadal dysgenesis associated with 21p‐ |
|
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|
|
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|
|
| Robertsonian Translocation and Prader‐Willi syndrome |
|
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|
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|
|
| Bloom's syndrome XI. Progress report for 1983 |
|
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|
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|
|
| Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis |
|
|
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|
|
|
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|
|
| A new psychomotor retardation syndrome with peculiar facies and marfan‐oid habitus |
|
|
|
|
|
|
|
|
|
| The NEU‐COFS (cerebro‐oculo‐facio‐skeletal) syndrome: report of a case |
|
|
|
|
|
|
|
|
|
| Clinical and Genetic Aspects of Fanconi's Anaemia Abstracts from Workshop at Free University |
|
|
|
|
|
|
|
|
|
| Letters to the Editors |
|
|
|
|
|
|
|
|
|
| Letters to the Editors |
|
|
|
|
|
|
|
|
|
| The use of structured scenarios in genetic counselling |
|
|
|
|
|
|
|
|
|
| Trisomy 7 and Potter syndrome |
|
|
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|
|
|
|
|
|
| Interstitial deletion of chromosome 1 (q23–25). Report of a case |
|
|
|
|
|
|
|
|
|
| Alternative explanations for recurrent achondroplasia in siblings of normal parents |
|
|
|
|
|
|
|
|
|
| Fourth International Conference on Environmental Mutagens |
|
|
|
|
|
|
|
|
|
| Chromosome maps of man and mouse II |
|
|
|
|
|
|
|
|
|
| The Nance‐Horan syndrome: a rare X‐linked ocular‐dental trait with expression in heterozygous females |
|
|
|
|
|
|
|
|
|
| Aneuploidy in recurrent spontaneous aborters: the tendency to parental nondisjunction |
|
|
|
|
|
|
|
|
|
| Agonadism with positive H‐Y antigen |
|
|
|
|
|
|
|
|
|
| Selection against genetic defects in semen donors |
|
|
|
|
|
|
|
|
|
| Genetics of site specific colon cancer: a family study |
|
|
|
|
|
|
✓ |
✓ |
Indian Sikh family |
| Prader‐Willi syndrome in Black females |
|
|
|
|
|
|
✓ |
✓ |
Black females |
| Chromosome studies on normal males in 16 families with the marker X chromosome |
|
|
|
|
|
|
|
|
|
| Controlled comparison of plasma and serum for cystic fibrosis protein |
|
|
|
|
|
|
|
|
|
| Pi phenotypes in patients with ankylosing spondylitis, acute anterior uveitis, psoriasis and chronic prostatitis |
|
|
|
|
|
|
✓ |
✓ |
Norwegian |
| Genital anomaly and cardiomyopathy: a new syndrome |
|
|
|
|
|
|
|
|
|
| Duplication in chromosome 15q in a boy with the Prader‐Willi syndrome; further cytogenetic confusion |
|
|
|
|
|
|
|
|
|
| Sensorineural deafness and peripheral neuropathy |
|
|
|
|
|
|
|
|
|
| Parental determinants of birth weight |
|
|
|
|
|
|
|
|
|
| α‐L‐iduronidase deficiency in mucopolysaccharidosis type I against a radio‐labelled sulfated disaccharide substrate derived from dermatan sulfate |
|
|
|
|
|
|
|
|
|
| ATPase activity of erythrocyte membrane in patients with trisomy 21 (Down's syndrome) |
|
|
|
|
|
|
|
|
|
| Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature |
|
|
|
|
|
|
|
|
|
| Klinefelter syndrome and two fragile X chromosomes |
|
|
|
|
|
|
|
|
|
| Non‐progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity |
|
|
|
|
|
|
|
|
|
| Familial 5p‐ syndrome |
|
|
|
|
|
|
|
|
|
| A supernumerary microchromosome in amniotic cell cultures and talipes equinovarus in a live born female |
|
|
|
|
|
|
|
|
|
| Epinephrine‐induced platelet aggregation. A twin study** |
|
|
|
|
|
|
|
|
|
| Abnormal chromosome in Prader‐Willi syndrome |
|
|
|
|
|
|
|
|
|
| Alpha‐mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation |
|
|
|
|
|
|
|
|
|
| Problems of detecting mosaicism in skin. A case of trisomy 8 mosaicism illustrating the advantages of <i>in situ</i> tissue culture |
|
|
|
|
|
|
|
|
|
| Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture |
|
|
|
|
|
|
|
|
|
| Fetal mortality in oral cleft families (VII): birth intervals |
|
|
|
|
|
|
|
|
|
| Arteriohepatic dysplasia: phenotypic features and family studies |
|
|
|
|
|
|
|
|
|
| Dermatoglyphic features in Prader‐Willi syndrome with respect to chromosomal findings |
|
|
|
|
|
|
|
|
|
| Deletion of the long arm of chromosome 11 [46, XX, deI(11)(q24.1 → qter)] |
|
|
|
|
|
|
|
|
|
| Clinical consequences of heterozygosity for autosomal‐recessive diseases*,** |
|
|
|
|
|
|
|
|
|
| Chromosome fragility in Alzheimer's disease |
|
|
|
|
|
|
|
|
|
| The development of four unselected 47,XYY boys |
|
|
|
|
|
|
|
|
|
| Myotonic dystrophy and autosomal balanced translocation t(2; 20) (p21; q11) |
|
|
|
|
|
|
|
|
|
| Abnormal B.A.E.P. in a family with Moebius syndrome: evidence for supranuclear lesion |
|
|
|
|
|
|
|
|
|
| Craniofrontonasal dysplasia ‐ a distinct entity with lethality in the male? |
|
|
|
|
|
|
|
|
|
| Nager's acrofacial dysostosis with thumb duplication: report of a case |
|
|
|
|
|
|
|
|
|
| A 5p;22q reciprocal translocation with a high risk for segregation of unbalanced offspring |
|
|
|
|
|
|
|
|
|
| First trimester biopsies of chorionic villi for prenatal diagnosis: experience of two laboratories |
|
|
|
|
|
|
|
|
|
| Four cases of the prenatal diagnosis of trisomy 20 mosaicism with a follow up investigation |
|
|
|
|
|
|
|
|
|
| Prometaphase chromosome and immunological studies in different derivatives of balanced t(8;14)(p231;q323) |
|
|
|
|
|
|
|
|
|
| Meningocele in a boy with trisomy 13 |
|
|
|
|
|
|
|
|
|
| “Blind” versus direct vision technique for fetal skin sampling in cases for prenatal diagnosis |
|
|
|
|
|
|
|
|
|
| Familial balanced insertion (5;10) and monosomy and trisomy (10) (q24.2→q25.3) |
|
|
|
|
|
|
|
|
|
| The level of 6‐phosphogluconate dehydrogenase (6‐PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub‐band p36.3 on chromosome 1 |
|
|
|
|
|
|
|
|
|
| Cytogenetics of ring chromosome 7 |
|
|
|
|
|
|
|
|
|
| Mohr syndrome variant or Joubert‐Boltshauser syndrome? |
|
|
|
|
|
|
|
|
|
| The Human Gene Map 15 November 1983 |
|
|
|
|
|
|
|
|
|
| Familial minor neurodevelopmental disorders |
|
|
|
|
|
|
|
|
|
| Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates |
|
|
|
|
|
|
|
|
|
| Five generations of t(4;8)(q35;q13) leading to a case of partial 8q trisomy with consideration of potential pregnancy outcomes from translocation carriers |
|
|
|
|
|
|
|
|
|
| Control of homozygous β‐thalassemia by carrier screening and antenatal diagnosis in Sardinians |
|
|
|
|
|
|
|
|
|
| Familial pericentric inversion (14)(p11;q24) with a rec dup(q) in one offspring |
|
|
|
|
|
|
|
|
|
| Manifestations and natural history of idiopathic hemihypertrophy: a review of eleven cases |
|
|
|
|
|
|
|
|
|
| Male to male transmission of the G syndrome |
|
|
|
|
|
|
|
|
|
| The impact of large Y chromosome on pregnancy, foetus and birth |
|
|
|
|
|
|
|
|
|
| Detection of the fragile X chromosome and other fragile sites |
|
|
|
|
|
|
|
|
|
| Usefulness of 4‐methylumbelliferyl‐6‐ sulfo‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside for the diagnosis of GM2 gangliosidoses in leukocytes |
|
|
|
|
|
|
|
|
|
| Fetal mortality in oral cleft families (IX): factors relating to the occurrence of sporadic clefts |
|
|
|
|
|
|
|
|
|
| Early clinical signs in Coffin‐Lowry syndrome |
|
|
|
|
|
|
|
|
|
| X‐linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplegia, hypospadias and cryptorchidism |
|
|
|
|
|
|
|
|
|
| The fragile X syndrome: A study of 83 families |
|
|
|
|
|
|
|
|
|
| Familial occurrence of azoospermia and extreme oligozoospermia |
|
|
|
|
|
|
|
|
|
| Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature |
|
|
|
|
|
|
|
|
|
| Weyers acrodental dysostosis in a family |
|
|
|
|
|
|
|
|
|
| Reply to Dr. Hoo |
|
|
|
|
|
|
|
|
|
| Mechanisms that cause Craniofacial and Oral Birth Defects |
|
|
|
|
|
|
|
|
|
| Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality |
|
|
|
|
|
|
|
|
|
| Ehlers‐Danlos syndrome type IV D: an autosomal recessive disorder |
|
|
|
|
|
|
|
|
|
| Reduced fertility in women with X chromosome abnormality |
|
|
|
|
|
|
|
|
|
| Cytogenetic and clinical findings in ten 45, X/46, XY patients* |
|
|
|
|
|
|
|
|
|
| Duplication or insertion in 15q11–13 associated with mental retardation ‐short stature and obesity ‐ Prader‐Willi or Cohen syndrome? |
|
|
|
|
|
|
|
|
|
| Partial Trisomy 9q resulting from a familial translocation t(9;16)(q32;q24) |
|
|
|
|
|
|
|
|
|
| Ocular, cerebral and cutaneous malformations: confirmation of an association |
|
|
|
|
|
|
|
|
|
| Fragile sites and chromosome breakpoints in constitutional rearrangements I. Amniocentesis |
|
|
|
|
|
|
|
|
|
| Oro‐facio‐digital syndromes I and II: radiological methods for diagnosis and the clinical variations |
|
|
|
|
|
|
|
|
|
| Analysis of a familial 15p + polymorphism: exclusion of Y/15 translocation |
|
|
|
|
|
|
|
|
|
| Occurrences of methylmalonic aciduria and Hartnup disorder in the same family |
|
|
|
|
|
|
|
|
|
| FamiIial vascuIar malformations Report of 25 members of one family |
|
|
|
|
|
|
|
|
|
| Papers presented at The Third Nordic Conference of Medical Genetics Helsinki, Finland, 17–19 February 1984 |
|
|
|
|
|
|
|
|
|
| Two cases of 11p13 interstitial deletion and unusual clinical features |
|
|
|
|
|
|
|
|
|
| Semi‐lethal bone dysplasia in three sibs: a new genetic disorder |
|
|
|
|
|
|
|
|
|
| Diagnostic transcervical chorionic biopsles in first trimester pregnancies |
|
|
|
|
|
|
|
|
|
| The Occurrence of “Finnish” hereditary diseases in the other Nordic countries |
|
|
|
|
|
|
|
|
|
| Basement membrane proteins in human amniotic fluid |
|
|
|
|
|
|
|
|
|
| Scoliosis and retinal changes in a G syndrome carrier |
|
|
|
|
|
|
|
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| Lchthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing* |
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| The Schinzel syndrome in a mother and daughter |
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| A Weaver‐like syndrome in a Japanese boy |
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✓ |
✓ |
mongoloid slanting of the palpebral fissures |
| The psychological profile of the fragile X syndrome |
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| Diagnostic considerations in arthrogry‐posis syndromes in South Africa |
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| Autosomal recessive inheritance of Charcot‐Marie‐Tooth disease associated with sensorineural deafness |
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✓ |
✓ |
Indian |
| Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis |
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| Is the Pi<sup>F</sup> allele of α<sub>1</sub>‐antitrypsin as‐sociated with pulmonary disease? |
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| Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium |
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| Partial sweat gland aplasia in incontinentia pigmenti Bloch‐Sulzberger |
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| Fetoscopy in prenatal diagnosis of the Majewski and the Saldino‐Noonan types of the Short Rib‐Polydactyly syndromes |
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| Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation |
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| Mandibuloacral dysplasia: a rare progeroid syndrome Two brothers confirm autosomal recessive inheritance |
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| Mosaic tetrasomy 21 in a male child |
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| Monosomy X associated with fra(17p12) and 22p‐ |
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| Further evidence for a significant effect of fetal genes on variation in birth weight |
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| Chorionic villi sampling under direct vision |
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| The manifestations and natural history of spondylo‐epi‐metaphyseal dysplasia with joint laxity |
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✓ |
✓ |
Afrikans‐speaking community of South Africa |
| Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs pheno‐type can result from a mutation that alters the structure of the androgen receptor |
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| The Coffin‐Siris syndrome: Report of a family and further delineation |
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| The gene for apolipoprotein C‐ll is closely linked to the gene for apolipoprotein E on chromosome 19 |
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| Amniotic fluid analysis in prenatal diagnosis of neural tube defects: a comparison between six biochemical tests supplementary to the measurement of amniotic fluid alpha‐fetoprotein |
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| Two sibs with bilateral diaphragmatic defect |
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| New anomalies found in the 11q‐ syndrome |
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| Cytogenetics of Prader‐Willi Syndrome |
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| The inheritance of constitutive and facultative skin colour |
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| Atypical gonadal dysgenesis: the role of Yq in determining phenotype and malignancy risk |
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| Preaxial polydactyly type 4: variability in a large kindred |
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| Polymorphism at the Apoprotein‐E locus in relation to risk of coronary disease |
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| Medical Genetics: 1984. May 10–12, 1984, in Washington, DC |
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| Interstitial deletion of band q12 of chromosome 5 |
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| Familial porencephaly |
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| Hydrops fetalis: a new aspect of trisomy 18 |
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| Hereditary lymphedema: a new combination of symptoms not fitting into present classifications |
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| Rocker bottom feet |
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| Unexpected findings at prenatal diagnosis |
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| Experience with transabdominal fine needle biopsy from chorionic villi in the first trimester: an alternative to amniocentesis |
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