Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 3, p. 183, doi. 10.1111/j.0009-9163.2004.00197.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2004 AND VI 65 AND IP 3
Results: 13
1
2
Letter to the Editor Supernumerary marker 15 chromosome in a patient with Prader–Willi syndrome.
- Published in:
- 2004
- By:
- Publication type:
- Letter
3
Polymorphisms in cytokines and growth factor genes and their association with acute rejection and recurrence of hepatitis C virus disease in liver transplantation.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 3, p. 191, doi. 10.1111/j.0009-9163.2004.00208.x
- By:
- Publication type:
- Article
4
Short Report Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 3, p. 209, doi. 10.1111/j.0009-9163.2004.00213.x
- By:
- Publication type:
- Article
5
Short Report Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 3, p. 215, doi. 10.1111/j.1399-0004.2004.00214.x
- By:
- Publication type:
- Article
6
Short Report The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 3, p. 226, doi. 10.1111/j.0009-9163.2004.00215.x
- By:
- Publication type:
- Article
7
Short Report Effective long-term control of cardiac events with β-blockers in a family with a common LQT1 mutation.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 3, p. 233, doi. 10.1111/j.0009-9163.2004.00221.x
- By:
- Publication type:
- Article
8
The Δ>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 3, p. 202, doi. 10.1111/j.0009-9163.2004.00223.x
- By:
- Publication type:
- Article
9
Letter to the Editor Heterozygous manifestations in female carriers of Mal de Meleda.
- Published in:
- 2004
- By:
- Publication type:
- Letter
10
Developmental Biology: Frontiers for Clinical Genetics Section Editors: Roderick R McInnes, e-mail: Jacques Michaud, e-mail: Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology.
- Published in:
- 2004
- By:
- Publication type:
- Other
11
Hotspot Mutations in a G protein-coupled receptor cause hypogonadotropic hypogonadism in humans and mice.
- Published in:
- 2004
- By:
- Publication type:
- Other
12
Hotspot MEF2A at the heart of coronary artery disease?
- Published in:
- 2004
- By:
- Publication type:
- Other
13
Hotspot RUNX1: transcription factor scores a hat-trick of autoimmune diseases.
- Published in:
- 2004
- By:
- Publication type:
- Other