Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 4
Results: 24
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 776, doi. 10.1093/hmg/ddr509
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- Article
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 863, doi. 10.1093/hmg/ddr520
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- Article
Cover Page.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. NP, doi. 10.1093/hmg/dds015
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- Article
Contents Page.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. NP, doi. 10.1093/hmg/dds014
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- Article
Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 934, doi. 10.1093/hmg/ddr523
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- Article
A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 841, doi. 10.1093/hmg/ddr514
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- Article
In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 900, doi. 10.1093/hmg/ddr527
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- Article
Derivation of new human embryonic stem cell lines reveals rapid epigenetic progression in vitro that can be prevented by chemical modification of chromatin.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 751, doi. 10.1093/hmg/ddr506
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- Article
Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 874, doi. 10.1093/hmg/ddr521
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- Article
Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 852, doi. 10.1093/hmg/ddr515
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- Article
Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 799, doi. 10.1093/hmg/ddr511
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- Article
Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 916, doi. 10.1093/hmg/ddr528
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- Article
Gene–gene interactions in breast cancer susceptibility.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 958
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- Article
A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 784, doi. 10.1093/hmg/ddr510
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- Article
A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 730, doi. 10.1093/hmg/ddr505
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- Article
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 947
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- Article
The BH4 domain of Bcl-XL rescues astrocyte degeneration in amyotrophic lateral sclerosis by modulating intracellular calcium signals.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 826, doi. 10.1093/hmg/ddr513
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- Article
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 721, doi. 10.1093/hmg/ddr504
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. NP, doi. 10.1093/hmg/dds016
- Publication type:
- Article
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 765, doi. 10.1093/hmg/ddr508
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. NP, doi. 10.1093/hmg/dds017
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- Article
LRRK2 Parkinson disease mutations enhance its microtubule association.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 890, doi. 10.1093/hmg/ddr526
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- Article
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 811, doi. 10.1093/hmg/ddr512
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- Article
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 926, doi. 10.1093/hmg/ddr522
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- Article