Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 18
Results: 23
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3491, doi. 10.1093/hmg/ddq265
- By:
- Publication type:
- Article
Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3662, doi. 10.1093/hmg/ddq274
- By:
- Publication type:
- Article
Fine mapping of chromosome 15q25.1 lung cancer susceptibility in African-Americans.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3652, doi. 10.1093/hmg/ddq268
- By:
- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. NP, doi. 10.1093/hmg/ddq318
- Publication type:
- Article
Genome-wide association of serum bilirubin levels in Korean population.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3672, doi. 10.1093/hmg/ddq281
- By:
- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. NP, doi. 10.1093/hmg/ddq319
- Publication type:
- Article
Parent-of-origin effects at the major histocompatibility complex in multiple sclerosis.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3679, doi. 10.1093/hmg/ddq282
- By:
- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. NP, doi. 10.1093/hmg/ddq320
- Publication type:
- Article
Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot–Marie–Tooth 1X.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3530, doi. 10.1093/hmg/ddq269
- By:
- Publication type:
- Article
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3623, doi. 10.1093/hmg/ddq278
- By:
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. NP, doi. 10.1093/hmg/ddq321
- Publication type:
- Article
KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3642, doi. 10.1093/hmg/ddq280
- By:
- Publication type:
- Article
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3591, doi. 10.1093/hmg/ddq275
- By:
- Publication type:
- Article
Common body mass index-associated variants confer risk of extreme obesity.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3690
- By:
- Publication type:
- Article
Biochemical and functional interaction between ZNF224 and ZNF255, two members of the Krüppel-like zinc-finger protein family and WT1 protein isoforms.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3544, doi. 10.1093/hmg/ddq270
- By:
- Publication type:
- Article
The primate-specific microRNA gene cluster (C19MC) is imprinted in the placenta.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3566, doi. 10.1093/hmg/ddq272
- By:
- Publication type:
- Article
β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3634, doi. 10.1093/hmg/ddq279
- By:
- Publication type:
- Article
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3583, doi. 10.1093/hmg/ddq273
- By:
- Publication type:
- Article
A cluster of pathogenic mutations in the 3′–5′ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3516, doi. 10.1093/hmg/ddq267
- By:
- Publication type:
- Article
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3614, doi. 10.1093/hmg/ddq277
- By:
- Publication type:
- Article
Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3557, doi. 10.1093/hmg/ddq271
- By:
- Publication type:
- Article
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3599, doi. 10.1093/hmg/ddq276
- By:
- Publication type:
- Article
The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3502, doi. 10.1093/hmg/ddq266
- By:
- Publication type:
- Article