| Elemente der klinischen Genetik. Grundlagen und Anwendung der Humangenetik in Studium und Praxis |
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| Metabolic Disease in Childhood |
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| HLA Bw35 antigen and human reproduction |
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| Genetic Mosaics and Chimeras in Mammals |
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| Haemoglobin Lepore Boston-Washington in Sicily: clinical, haematological, and biosynthetic studies. |
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| Familial pericentric inversion 19. |
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| Tetrasomy 9p: confirmation by enzyme analysis. |
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| Correction |
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| Increase in the amount of fetal lymphocytes in maternal blood during pregnancy. |
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| Estimates of the likelihood that a Down's syndrome child of unknown genotype is a consequence of an inherited translocation. |
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| Pericentric inversion (13) with two different recombinants in the same family. |
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| Correspondence |
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| Clinical manifestations of familial 13;18 translocation. |
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| A familial polymorphic variant of chromosome 5. |
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| Sequential staining of euchromatic and heterochromatic regions of the human Y chromosome. |
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| Sickle cell disease in Sicily. |
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| Dominant inheritance in a family with primary atrophic rhinitis. |
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| High resolution of a small pericentric inversion of chromosome 11. |
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| Frontometaphyseal dysplasia: autosomal dominant or X-linked? |
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| Concurrence of anorexia nervosa and yellow mutant albinism. |
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| A family and population study of the genetic polymorphism of debrisoquine oxidation in a white British population. |
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✓ |
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| Ring chromosome 10: 46,XX,r(10)(p15->q26) |
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| Hypomelanosis of Ito with triphalangeal thumbs. |
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| A case of Klinefelter's syndrome with 47,Xi(Xq)Y karyotype |
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| Prenatal study of X-linked aqueductal stenosis. |
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| Excess of cancer deaths in grandparents of patients with retinoblastoma. |
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| A severely retarded 18-year-old boy with tertiary partial trisomy 14. |
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| A family with diaphyseal aclasis and peripheral dysostosis. |
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| Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings. |
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| Correspondence |
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| Papers presented at the Clinical Genetics Society meeting, 24--25 April 1980 |
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| Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies. |
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| Haems and chlorophylls: comparison of function and formation. |
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| Genetics and Cancer in Man |
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| Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. |
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✓ |
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gypsies |
| A family study of bladder exstrophy. |
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| Amniocentesis in the West Midlands: report on 1000 births |
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| A family study of spina bifida and anencephalus in Belfast, Northern Ireland (1964 to 1968). |
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| Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation. |
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| Incidence of Duchenne muscular dystrophy in New South Wales and Australian Capital Territory. |
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| Pitfalls of genetic counselling in Pfeiffer's syndrome. |
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| Review of `The provision of services for the prenatal diagnosis of fetal abnormality in the United Kingdom'. Report of the Clinical Genetics Society Working Party. Supplement No 3 to the Bulletin of t |
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| Prenatal diagnosis of a de novo non-fluorescent Y chromosome. |
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| Autosomal dominant inheritance of Gerhardt's syndrome in three generations of a family. |
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| Linkage and association between HLA and 21-hydroxylase deficiency. |
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| alpha-Thalassaemia in Sardinian infants. |
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Sardinian |
| Short reports |
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| Arnold Sorsby: Editor, Journal of Medical Genetics, 1962-1969 |
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| The grandchildren of patients with pyloric stenosis |
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| Autosomal recessive peripheral sensory neuropathy in 3 non-Ashkenazi Jewish families. |
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| Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype. |
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| Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15). |
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| Higher risk to D;G translocation carriers fo tdic(13;21) as compared to tdic(14;21) |
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| Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis. |
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| Trisomy 21 mosaicism in two successive generations in a family. |
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| Dermatoglyphic findings in Poland's syndrome. |
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| 47,XXX chromosome constitution in a male. |
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| Complex chromosomal rearrangement leading to partial trisomy 22. |
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| Familial X-linked mental retardation with an X chromosome abnormality and macro-orchidism. |
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| Covesdem syndrome. |
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| Parental factors associated with rigidity in Huntington's disease. |
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| Partial anomalous pulmonary venous drainage in two patients with Turner's syndrome. |
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| Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother. |
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| HLA Bw35 antigen and human reproduction. |
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| Risk of recurrence after two children with central nervous system malformations in an area of high incidence. |
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| Carrier detection in Duchenne muscular dystrophy. |
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| Antiproteases and Down's syndrome in an Australian population. |
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| The syndromes of Marshall and Weaver. |
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| Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship. |
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| Gonadal dysgenesis in a patient with an X;3 translocation: case report and review. |
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| Occasional abstract: Growing embryos in vitro, with special reference to congenital abnormalities in the offspring of mothers with diabetes mellitus |
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| Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. |
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| 13q-/r(13) mosaicism. |
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| Genetic inheritance of susceptibility to tinea imbricata. |
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| Culture of bloody amniotic fluid for chromosome analysis: an improved method. |
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| A liveborn case of 49,XXXY, + 18. |
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| A case of 47,XY,+der(15),t(3;15) (p25;qll)pat presenting as partial 3p trisomy syndrome with multiple joint contractures |
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| Location of the gene for 21-hydroxylase deficiency. |
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| Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations. |
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| Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+). |
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| Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter). |
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| Neurological and neuropathological findings in ring chromosome 4. |
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| An overall genetic risk assessment for radiological protection purposes. |
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| Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis. |
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| Dermatoglyphic findings in Laurence-Moon-Biedl syndrome. |
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| Chemical Mutagens. Principles and Methods for their Detection |
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| Familial cerebellar ataxia presenting with down beat nystagmus. |
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| An epidemiological study of facial clefting in Manitoba. |
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| Diaphragmatic hernia in Avon. |
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| Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling. |
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| Dermatoglyphs and chromosome mosaicism in parents of children with trisomy 18. |
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| John Fraser Roberts's 80th birthday |
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| The Neutrophil: Function and Clinical Disorders |
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| Concordance rates in twins for anencephaly. |
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| Screening of thalassaemia carriers in intermediate school of Latium: results of four years' work. |
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| Haemoglobin K Woolwich: a study of the family of a homozygote. |
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| Dermatoglyphs in duplication of the thumb. |
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| Waardenburg's syndrome. |
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| Recessively inherited growth hormone deficiency in a family from Iraq. |
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family from Iraq |
| 45,X/46,XY/47,XY, +21 mosaicism in a hypogonadal phenotypic male. |
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| Congenital horizontal gaze palsy and kyphoscoliosis. |
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| Classification of inherited brachydactylies. |
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| Tuberous Sclerosis. |
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| Genetic aspects of hereditary motor and sensory neuropathy (types I and II) |
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| Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. |
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| Recent views on genetic factors in retinoblastoma. |
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| Proximal femoral focal deficiency associated with the Robin anomalad. |
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| Genetic Diseases of the Skin |
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| A family segregating for E1j and E1k at cholinesterase locus 1. |
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| Corrections |
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| Cause of neural tube defects. |
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| Inbreeding effects on fetal growth and development |
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| Familial caudal regression anomalad and maternal diabetes. |
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| Human Genetics (Outline Studies in Biology) |
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| No sex difference in mutations rates of Duchenne muscular dystrophy. |
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| Papers presented at the Clinical Genetics Society meeting, 15--16 November 1979 |
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| Mutagenesis in Sub-Mammalian Systems: Status and Significance |
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| Aarskog's syndrome with Hirschsprung's disease, midgut malrotation, and dental anomalies. |
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| A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton. |
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| Negro alpha-thalassaemia: genetic studies in homozygous sickle cell disease. |
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Negro |
| Haemoglobin E trait and probable alpha-thalassaemia in a black American family: a family study. |
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black American |
| Dermatoglyphs in carriers of a balanced 15;21 translocation. |
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| Correspondence |
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| Congenital hypothyroidism and Klinefelter's syndrome. |
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| Correspondence |
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| Origin of the additional chromosome in Down's syndrome: a study of 20 families. |
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| New C band markers of human chromosomes: C band position variants. |
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| De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics. |
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| Primary protrusio acetabuli in four generations of an Italian family. |
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Italian |
| The Gordon syndrome. |
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| The Cohen syndrome: clinical and endocrinological studies of two new cases. |
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| Down syndrome and maternal age in South Glamorgan. |
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| X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism. |
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| Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome. |
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| Simultaneous G- and C- banding for human chromosomes. |
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| Recessive aplasia cutis congenita of the limbs. |
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| Alkaline phosphatase activity of normal and cystic fibrosis fibroblasts. |
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| G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred. |
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Irish kindred |
| Huntington's disease in two New Britain families. |
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| Menkes X linked disease: two clonal cell populations in heterozygotes. |
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| Segregation of an X ring chromosome in two generations. |
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| Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21. |
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| Maternal age and origin of non-disjunction in trisomy 21. |
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| The penta-X syndrome. |
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| Reproduction |
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| Genetic and clinical patterns of heritable cerebellar ataxias in adults. I. Genetic analyses. |
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| A cryopreservative procedure for storing cultivated and uncultivated amniotic fluid cells in liquid nitrogen. |
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| Question and answer |
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| A probable case of the homozygous condition of the aniridia gene. |
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