Insulin-dependent diabetes developed in a young man with Bloom's syndrome.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 251, doi. 10.1111/j.1399-0004.1991.tb03088.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1991 AND VI 40 AND IP 3
Results: 21
1
2
Identification of a marker chromosome as inv dup(15) by molecular analysis.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 233, doi. 10.1111/j.1399-0004.1991.tb03083.x
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- Publication type:
- Article
3
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.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 215, doi. 10.1111/j.1399-0004.1991.tb03079.x
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- Publication type:
- Article
4
Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 237, doi. 10.1111/j.1399-0004.1991.tb03084.x
- By:
- Publication type:
- Article
5
Association of a genetic polymorphism in human apolipoprotein B-100 with intermediate density lipoprotein concentrations.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 178, doi. 10.1111/j.1399-0004.1991.tb03073.x
- By:
- Publication type:
- Article
6
Mosaic trisomy 8 associated with jejunal duplication.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 254, doi. 10.1111/j.1399-0004.1991.tb03091.x
- By:
- Publication type:
- Article
7
Poland-Moebius syndrome in a boy and Poland syndrome in his mother.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 225, doi. 10.1111/j.1399-0004.1991.tb03081.x
- By:
- Publication type:
- Article
8
Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 207, doi. 10.1111/j.1399-0004.1991.tb03078.x
- By:
- Publication type:
- Article
9
Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 247, doi. 10.1111/j.1399-0004.1991.tb03086.x
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- Publication type:
- Article
10
Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 218, doi. 10.1111/j.1399-0004.1991.tb03080.x
- By:
- Publication type:
- Article
11
Smith-Lemli-Opitz syndrome in female, monozygotic twins.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 229, doi. 10.1111/j.1399-0004.1991.tb03082.x
- By:
- Publication type:
- Article
12
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
- Publication type:
- Article
13
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.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 202, doi. 10.1111/j.1399-0004.1991.tb03077.x
- By:
- Publication type:
- Article
14
Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 242, doi. 10.1111/j.1399-0004.1991.tb03085.x
- By:
- Publication type:
- Article
15
First treatment of family with hereditary adductor cord paralysis.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 253, doi. 10.1111/j.1399-0004.1991.tb03090.x
- By:
- Publication type:
- Article
16
Enhancement of amniotic fluid cell growth for genetic amniocentesis.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 190, doi. 10.1111/j.1399-0004.1991.tb03075.x
- By:
- Publication type:
- Article
17
Absence of predictable phenotypic expression in proximal 15q duplications.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 194, doi. 10.1111/j.1399-0004.1991.tb03076.x
- By:
- Publication type:
- Article
18
Acrodysgenital dwarfism or Smith-Lemli-Opitz type II syndrome.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 252, doi. 10.1111/j.1399-0004.1991.tb03089.x
- By:
- Publication type:
- Article
19
A Taql RFLP at the human renal kallikrein (KLK1) locus.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 256, doi. 10.1111/j.1399-0004.1991.tb03092.x
- By:
- Publication type:
- Article
20
Hypoplasia of the corpus callosum and growth hormone deficiency in a boy with the XXXXY syndrome.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 249, doi. 10.1111/j.1399-0004.1991.tb03087.x
- By:
- Publication type:
- Article
21
Trembling chin - a report of this inheritable dominant character in a four-generation Canadian family.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 3, p. 186, doi. 10.1111/j.1399-0004.1991.tb03074.x
- By:
- Publication type:
- Article