Works matching IS 00099163 AND DT 2001 AND VI 60 AND IP 3
Results: 14
Two new genes have been identified for the obesity disorder Bardet-Biedl syndrome.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 176
- Publication type:
- Article
Identification of a Crohn's disease susceptibility gene.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 174
- Publication type:
- Article
Distal limb malformations: underlying mechanisms and clinical associations.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 165, doi. 10.1034/j.1399-0004.2001.600301.x
- By:
- Publication type:
- Article
Discoveries in Charcot–Marie–Tooth disease, Crohn's disease and Bardet–Biedl syndrome 4.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 173, doi. 10.1034/j.1399-0004.2001.600302.1.x
- By:
- Publication type:
- Article
Family-based transmission disequilibrium test (TDT) and case–control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 178, doi. 10.1034/j.1399-0004.2001.600303.x
- By:
- Publication type:
- Article
Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 226, doi. 10.1034/j.1399-0004.2001.600309.x
- By:
- Publication type:
- Article
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 198, doi. 10.1034/j.1399-0004.2001.600305.x
- By:
- Publication type:
- Article
Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 206, doi. 10.1034/j.1399-0004.2001.600306.x
- By:
- Publication type:
- Article
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 212, doi. 10.1034/j.1399-0004.2001.600307.x
- By:
- Publication type:
- Article
Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 220, doi. 10.1034/j.1399-0004.2001.600308.x
- By:
- Publication type:
- Article
Lipoprotein(a) as a risk factor for maternal cardiovascular disease mortality in kindreds with familial combined hyperlipidemia or familial hypertriglyceridemia.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 188, doi. 10.1034/j.1399-0004.2001.600304.x
- By:
- Publication type:
- Article
Medical genetics and patient use of the Internet.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 232, doi. 10.1034/j.1399-0004.2001.600310.x
- By:
- Publication type:
- Article
Hypermobility type of Ehlers–Danlos syndrome: influence of pregnancies.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 3, p. 240, doi. 10.1034/j.1399-0004.2001.600312.x
- By:
- Publication type:
- Article
Features within the holoprosencephaly spectrum in sibs with a Robertsonian (14q;22q) translocation chromosome.
- Published in:
- 2001
- By:
- Publication type:
- Case Study