Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 16
Results: 22
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3075
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- Article
Cover Page.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. NP, doi. 10.1093/hmg/ddp284
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- Article
The A2A adenosine receptor rescues the urea cycle deficiency of Huntington's disease by enhancing the activity of the ubiquitin–proteasome system.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 2929, doi. 10.1093/hmg/ddp230
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- Article
Editorial Board.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. NP, doi. 10.1093/hmg/ddp285
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- Article
Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3066, doi. 10.1093/hmg/ddp248
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Natural mutations of the anti-Müllerian hormone type II receptor found in persistent Müllerian duct syndrome affect ligand binding, signal transduction and cellular transport.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3002, doi. 10.1093/hmg/ddp238
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- Article
Diet-induced hepatocellular carcinoma in genetically predisposed mice.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 2975, doi. 10.1093/hmg/ddp236
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- Article
Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3125, doi. 10.1093/hmg/ddp231
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- Article
Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 2943, doi. 10.1093/hmg/ddp232
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- Article
The transcription co-factor CITED2 functions during sex determination and early gonad development.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 2989, doi. 10.1093/hmg/ddp237
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 16, p. NP, doi. 10.1093/hmg/ddp287
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- Article
Impaired PGC-1α function in muscle in Huntington's disease.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3048, doi. 10.1093/hmg/ddp243
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Human ISD11 is essential for both iron–sulfur cluster assembly and maintenance of normal cellular iron homeostasis.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3014, doi. 10.1093/hmg/ddp239
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- Article
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 2963, doi. 10.1093/hmg/ddp235
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- Article
HnRNP U mediates the long-range regulation of Shh expression during limb development.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3090, doi. 10.1093/hmg/ddp250
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- Article
Segregation of expression of mPeriod gene homologs in neurons and glia: possible divergent roles of mPeriod1 and mPeriod2 in the brain.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3110, doi. 10.1093/hmg/ddp252
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- Article
A variant in the gene FUT9 is associated with susceptibility to placental malaria infection.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3136, doi. 10.1093/hmg/ddp240
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- Article
Epigenomic profiling indicates a role for DNA methylation in early postnatal liver development.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3026, doi. 10.1093/hmg/ddp241
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- Article
Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3039, doi. 10.1093/hmg/ddp242
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- Article
Contents Page.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. NP, doi. 10.1093/hmg/ddp286
- Publication type:
- Article
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 2957, doi. 10.1093/hmg/ddp233
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Aberrant de novo methylation of the p16INK4A CpG island is initiated post gene silencing in association with chromatin remodelling and mimics nucleosome positioning.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 3098, doi. 10.1093/hmg/ddp251
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