Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 9
Results: 22
Cover Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. NP, doi. 10.1093/hmg/ddp144
- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. NP, doi. 10.1093/hmg/ddp145
- Publication type:
- Article
Association of HY-restricting HLA class II alleles with pregnancy outcome in patients with recurrent miscarriage subsequent to a firstborn boy.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1684, doi. 10.1093/hmg/ddp077
- By:
- Publication type:
- Article
Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1652, doi. 10.1093/hmg/ddp086
- By:
- Publication type:
- Article
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1600, doi. 10.1093/hmg/ddp076
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- Publication type:
- Article
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1624, doi. 10.1093/hmg/ddp080
- By:
- Publication type:
- Article
Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1642, doi. 10.1093/hmg/ddp085
- By:
- Publication type:
- Article
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1566, doi. 10.1093/hmg/ddp068
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- Publication type:
- Article
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1717, doi. 10.1093/hmg/ddp082
- By:
- Publication type:
- Article
Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves’ disease.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1704, doi. 10.1093/hmg/ddp087
- By:
- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. NP, doi. 10.1093/hmg/ddp143
- Publication type:
- Article
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1670, doi. 10.1093/hmg/ddp073
- By:
- Publication type:
- Article
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1714, doi. 10.1093/hmg/ddp062
- By:
- Publication type:
- Article
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1556, doi. 10.1093/hmg/ddp067
- By:
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. NP, doi. 10.1093/hmg/ddp146
- Publication type:
- Article
Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1661, doi. 10.1093/hmg/ddn405
- By:
- Publication type:
- Article
A heteroplasmic, not homoplasmic, mitochondrial DNA mutation promotes tumorigenesis via alteration in reactive oxygen species generation and apoptosis.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1578, doi. 10.1093/hmg/ddp069
- By:
- Publication type:
- Article
FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1692, doi. 10.1093/hmg/ddp078
- By:
- Publication type:
- Article
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1612, doi. 10.1093/hmg/ddp079
- By:
- Publication type:
- Article
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1590, doi. 10.1093/hmg/ddp074
- By:
- Publication type:
- Article
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1633, doi. 10.1093/hmg/ddp081
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- Publication type:
- Article
Germline CDH1 deletions in hereditary diffuse gastric cancer families.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1545, doi. 10.1093/hmg/ddp046
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- Publication type:
- Article