Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 14
Results: 10
Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1465
- By:
- Publication type:
- Article
Functional analysis of neurofibromatosis 2 (NF2) missense mutations.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1519
- By:
- Publication type:
- Article
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1475
- By:
- Publication type:
- Article
Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1491
- By:
- Publication type:
- Article
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1441
- By:
- Publication type:
- Article
Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14
- By:
- Publication type:
- Article
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1449
- By:
- Publication type:
- Article
Mutations in the diastrophic dysplasia sulfate transporter ( DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1485
- By:
- Publication type:
- Article
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1503
- By:
- Publication type:
- Article
An element in intron 1 of the CFTR gene augments intestinal expression in vivo.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1455
- By:
- Publication type:
- Article