Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 1
Results: 22
BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 128, doi. 10.1093/hmg/ddn323
- By:
- Publication type:
- Article
Transcript- and tissue-specific imprinting of a tumour suppressor gene.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 118, doi. 10.1093/hmg/ddn322
- By:
- Publication type:
- Article
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 151, doi. 10.1093/hmg/ddn325
- By:
- Publication type:
- Article
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 12, doi. 10.1093/hmg/ddn309
- By:
- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. NP, doi. 10.1093/hmg/ddp129
- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. NP, doi. 10.1093/hmg/ddp130
- Publication type:
- Article
Hearing loss in a mouse model of Muenke syndrome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 43, doi. 10.1093/hmg/ddn311
- By:
- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. NP, doi. 10.1093/hmg/ddp132
- Publication type:
- Article
Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 105, doi. 10.1093/hmg/ddn321
- By:
- Publication type:
- Article
Mitochondrial abnormalities in spinal and bulbar muscular atrophy.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 27, doi. 10.1093/hmg/ddn310
- By:
- Publication type:
- Article
Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 202, doi. 10.1093/hmg/ddn337
- By:
- Publication type:
- Article
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 193, doi. 10.1093/hmg/ddn336
- By:
- Publication type:
- Article
Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 142
- By:
- Publication type:
- Article
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 51, doi. 10.1093/hmg/ddn312
- By:
- Publication type:
- Article
Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis†.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 82, doi. 10.1093/hmg/ddn319
- By:
- Publication type:
- Article
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 97
- By:
- Publication type:
- Article
The conserved translocase Tim17 prevents mitochondrial DNA loss.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 65, doi. 10.1093/hmg/ddn313
- By:
- Publication type:
- Article
Dissociation of tau toxicity and phosphorylation: role of GSK-3β, MARK and Cdk5 in a Drosophila model.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 164, doi. 10.1093/hmg/ddn326
- By:
- Publication type:
- Article
New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 178, doi. 10.1093/hmg/ddn327
- By:
- Publication type:
- Article
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 75, doi. 10.1093/hmg/ddn318
- By:
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. NP, doi. 10.1093/hmg/ddp131
- Publication type:
- Article
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 1
- By:
- Publication type:
- Article