Works matching IS 00099163 AND DT 1991 AND VI 40 AND IP 3
Results: 21
Insulin-dependent diabetes developed in a young man with Bloom's syndrome.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 251, doi. 10.1111/j.1399-0004.1991.tb03088.x
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- Article
Identification of a marker chromosome as inv dup(15) by molecular analysis.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 233, doi. 10.1111/j.1399-0004.1991.tb03083.x
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Extra small marker chromosome associated with normal phenotype due to 3:1 disjunction of t(14;22) in a parent. Implications for the origin of marker chromosomes.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 215, doi. 10.1111/j.1399-0004.1991.tb03079.x
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Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 237, doi. 10.1111/j.1399-0004.1991.tb03084.x
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Association of a genetic polymorphism in human apolipoprotein B-100 with intermediate density lipoprotein concentrations.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 178, doi. 10.1111/j.1399-0004.1991.tb03073.x
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Mosaic trisomy 8 associated with jejunal duplication.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 254, doi. 10.1111/j.1399-0004.1991.tb03091.x
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Poland-Moebius syndrome in a boy and Poland syndrome in his mother.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 225, doi. 10.1111/j.1399-0004.1991.tb03081.x
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Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 207, doi. 10.1111/j.1399-0004.1991.tb03078.x
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- Article
Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 247, doi. 10.1111/j.1399-0004.1991.tb03086.x
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Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 218, doi. 10.1111/j.1399-0004.1991.tb03080.x
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Smith-Lemli-Opitz syndrome in female, monozygotic twins.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 229, doi. 10.1111/j.1399-0004.1991.tb03082.x
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DNA markers in candidate genes.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 177, doi. 10.1111/j.1399-0004.1991.tb03072.x
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- Article
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 202, doi. 10.1111/j.1399-0004.1991.tb03077.x
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Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 242, doi. 10.1111/j.1399-0004.1991.tb03085.x
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- Article
First treatment of family with hereditary adductor cord paralysis.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 253, doi. 10.1111/j.1399-0004.1991.tb03090.x
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- Article
Enhancement of amniotic fluid cell growth for genetic amniocentesis.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 190, doi. 10.1111/j.1399-0004.1991.tb03075.x
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Absence of predictable phenotypic expression in proximal 15q duplications.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 194, doi. 10.1111/j.1399-0004.1991.tb03076.x
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- Article
Acrodysgenital dwarfism or Smith-Lemli-Opitz type II syndrome.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 252, doi. 10.1111/j.1399-0004.1991.tb03089.x
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A Taql RFLP at the human renal kallikrein (KLK1) locus.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 256, doi. 10.1111/j.1399-0004.1991.tb03092.x
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Hypoplasia of the corpus callosum and growth hormone deficiency in a boy with the XXXXY syndrome.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 249, doi. 10.1111/j.1399-0004.1991.tb03087.x
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Trembling chin - a report of this inheritable dominant character in a four-generation Canadian family.
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- Clinical Genetics, 1991, v. 40, n. 3, p. 186, doi. 10.1111/j.1399-0004.1991.tb03074.x
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- Article