| Myotonic Dystrophy |
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| Inherited Disorders of Carbohydrate Metabolism |
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| Genetic Disorders and the Fetus. Diagnosis, Prevention, and Treatment |
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| Risks to the offspring of patients with some common congenital heart defects. |
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| Beta-Thalassaemia types in southern Sardinia. |
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| Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0). |
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| 'Pseudo-dominant' inheritance in Friedreich's ataxia. |
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| Fetal cells in the blood of pregnant mothers. |
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| Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism. |
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| The Principles of Human Biochemical Genetics |
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| Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. |
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| A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia. |
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| PiPclifton: a new 1-antitrypsin allele in an American Negro family |
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✓ |
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American Negro family |
| Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister. |
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| Human Genetics. Problems and Approaches |
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| Congenital hydrocephalus in two pregnancies following the birth of a child with a neural tube defect: aetiology and management. |
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| A case of trisomy of chromosome 15 |
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| Familial partial 14 trisomy. |
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| Correction |
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| Evaluation of information-guidance genetic counselling. |
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| Confirmation of the multifactorial threshold model for congenital structural talipes equinovarus. |
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| Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation. |
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| Human Gene Mapping 5 |
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| Recurrence rates for neural tube defects and vitamin supplementation |
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| The Patterson syndrome, leprechaunism, and pseudoleprechaunism. |
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| Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship. |
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| Ring chromosome 14: a distinct clinical entity. |
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| Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies. |
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| Genetic counselling for handicapped school leavers. |
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| Complete trisomy 9 in two liveborn infants. |
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| Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9. |
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| 18p-- syndrome with a single central maxillary incisor |
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| Hereditary motor and sensory neuropathy. |
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| Correspondence |
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| Hereditary multiple exostoses: report of a kindred. |
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| Genetic aspects of autosomal dominant late onset cerebellar ataxia. |
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| Cherchez les femmes (or the personal touch in the laboratory). |
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| Down syndrome associated with father's age in Norway. |
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| Variable expression in Pfeiffer syndrome. |
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| Theory of Population Genetics and Evolutionary Ecology: An Introduction |
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| Monozygotic twins discordant for exstrophy of the urinary bladder. |
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| A family study of protracted diarrhoea in infancy. |
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| Ectodermal dysplasia in females and inversion of chromosome 9. |
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| Clinical Genetics Society. Abstracts of scientific papers presented on 18 and 19 September 1980 in Aberdeen |
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| Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation. |
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| Anal atresia and the Klein-Waardenburg syndrome. |
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| The bristol registry of bone dysplasias: the first 10 years. |
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| Phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes. |
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| Clinical Genetics Society: Posters available during various breaks, 18/19 September 1980 |
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| A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child. |
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| Tetraploidy in a liveborn infant with spina bifida and other anomalies. |
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| Retardation of ovarian growth in male-sterile mice carrying an autosomal translocation. |
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| Trehalase activity in genetically diabetic mice (serum, kidney, and liver). |
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| Partial trisomy 12q: report of a case and review. |
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| Season and interval for recurrence of neural tube defects. |
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| Objective knowledge about Huntington's disease and attitudes towards predictive tests of persons at risk. |
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| Two brothers with the Marden-Walker syndrome: case report and review |
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| A 13-year-old girl with karyotype 47,XX,+i(22)(qll) |
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| Familial chromosome translocation t(3;18)(p21;p11). |
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| Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia. |
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| Principles of Gene Manipulation. An Introduction to Genetic Engineering |
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| Development, Growth and Ageing |
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| Recurrence risks for neural tube defects in a genetic counseling clinic population. |
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| Dominant transmission of Sprengel's shoulder and cleft palate |
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| A clinical study of a family with Cockayne's syndrome |
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| Human acetylator polymorphism: estimate of allele frequency in Libya and details of global distribution. |
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| Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy. |
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| 5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. |
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| Diplospermy II indicated as the origin of a liveborn human triploid (69,XXX). |
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| Ectrodactyly, cleft lip and palate in two half sibs. |
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| Correspondence: Gonadal dysgenesis with 46,X,Xt(qter->p221:: p223->qter) karyotype |
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| Correspondence |
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| Practical Genetic Counselling |
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| Genetics of Gastrointestinal Disease |
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| Genes for super-intelligence? |
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| Are congenital vertebral anomalies and spina bifida cystica aetiologically related? |
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| Multiple pterygium syndrome. |
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| Differences between the events preceding spina bifida and anencephaly. |
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| Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation. |
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| Monosomy 22 with mosaicism |
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| The aetiology of the cat eye syndrome reconsidered. |
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| Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta? |
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| Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures |
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| Partial trisomy 12q. |
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| Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome |
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| Prenatal diagnosis for adenosine deaminase deficiency. |
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| Huntington's disease in Tanzania. |
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| Inheritance of a ring 14 chromosome. |
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| Partial trisomy 6p: 46,XX, -10, der(10),t(6;10) (p22;q26)pat and HLA localisation. |
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| An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome? |
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| Effectiveness of one tube osmotic fragility screening in detecting beta-thalassaemia trait. |
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| Cystic fibrosis and the month of birth |
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| Correspondence |
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| Recurrence risk of neural tube defects. |
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| Adenosine deaminase polymorphism. Associations at clinical level suggest a role in cell functions and immune reactions. |
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| Genetic Metabolic Diseases. Early Diagnosis and Prenatal Analysis |
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| Inborn Errors of Metabolism |
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| Prenatal Diagnosis |
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| Distal symphalangism associated with camptodactyly. |
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| HLA and renal transplantation: yet another approach. |
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| Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5). |
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| Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype. |
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| A case of the orocraniodigital (Juberg-Hayward) syndrome. |
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| A new case of Prader-Willi syndrome with chromosomal aberration. |
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| A female with XO/XY mosaicism and partial trisomy 9p. |
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| Partial trisomy for long arm of chromosome 16. |
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| A genetic study of Duchenne muscular dystrophy in West Midlands. |
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| Temporal increase in the rate of Down syndrome livebirths to older mothers in New York State. |
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| Interaction of - and 0-thalassaemia: haematological features and globin chain synthesis analysis |
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| Trisomy 10p produced by recombination involving maternal inversion inv(10)(pllq26). |
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| Advances in Human Genetics |
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| Coincidence of neurofibromatosis and myotonic dystrophy in a kindred. |
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| Birth frequency of bilateral renal agenesis. |
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| Children of those treated surgically for Hirschsprung's disease. |
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| Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy. |
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| Advances in Human Genetics |
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| Genetics |
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| Genes and the Mind. Inheritance of Mental Illness |
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| A family study of hydrocephalus resulting from aqueduct stenosis. |
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| Genetic and clinical patterns of heritable cerebellar ataxias in adults. II. Clinical manifestations. |
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| Monozygotic twins discordant for rubinstein-taybi syndrome. |
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| Poland-Mobius syndrome. |
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| Risk counselling in autosomal dominant disorders with undetermined penetrance. |
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| The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. |
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| Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally. |
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| A Handbook of Clinical Genetics |
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| Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. |
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| Homodicentric chromosomes: a distinctive type of dicentric chromosome. |
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| Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25). |
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| Neuronal ceroid lipofuscinosis and arthropathy: a family study. |
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| Inherited abnormalities of collagen. |
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| A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly |
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| The Management of Genetic Disorders |
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| Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. |
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| A method for studying the skeleton of human fetuses. |
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| Dermatoglyphs in congenital heart disease. |
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| Meiotic behaviour of two human reciprocal translocations. |
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| Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome. |
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| The development of clinical genetics. |
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| Symmetrical infantile thalamic degeneration in two sibs |
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| Unilateral radial aplasia and trisomy 22 mosaicism. |
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