Found: 24
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GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1481, doi. 10.1093/hmg/ddr584
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- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. NP, doi. 10.1093/hmg/dds076
- Publication type:
- Article
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1534, doi. 10.1093/hmg/ddr591
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- Publication type:
- Article
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1521, doi. 10.1093/hmg/ddr590
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- Publication type:
- Article
Polyunsaturated fatty acid levels in blood during pregnancy, at birth and at 7 years: their associations with two common FADS2 polymorphisms.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1504, doi. 10.1093/hmg/ddr588
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- Publication type:
- Article
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1639, doi. 10.1093/hmg/ddr601
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- Publication type:
- Article
A systematic characterization of genes underlying both complex and Mendelian diseases.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1611, doi. 10.1093/hmg/ddr599
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- Publication type:
- Article
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1581, doi. 10.1093/hmg/ddr595
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- Publication type:
- Article
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1513, doi. 10.1093/hmg/ddr589
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- Publication type:
- Article
A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1665, doi. 10.1093/hmg/ddr597
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- Publication type:
- Article
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1544, doi. 10.1093/hmg/ddr592
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- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. NP, doi. 10.1093/hmg/dds077
- Publication type:
- Article
Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1648, doi. 10.1093/hmg/ddr586
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- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. NP, doi. 10.1093/hmg/dds075
- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. NP, doi. 10.1093/hmg/dds074
- Publication type:
- Article
A genome-wide association and gene–environment interaction study for serum triglycerides levels in a healthy Chinese male population.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1658, doi. 10.1093/hmg/ddr587
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- Publication type:
- Article
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1496, doi. 10.1093/hmg/ddr585
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- Publication type:
- Article
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1625, doi. 10.1093/hmg/ddr600
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- Publication type:
- Article
Microbiomic subprofiles and MDR1 promoter methylation in head and neck squamous cell carcinoma.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1557, doi. 10.1093/hmg/ddr593
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- Publication type:
- Article
HSC20 interacts with frataxin and is involved in iron–sulfur cluster biogenesis and iron homeostasis.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1457, doi. 10.1093/hmg/ddr582
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- Publication type:
- Article
β1D chain increases α7β1 integrin and laminin and protects against sarcolemmal damage in mdx mice.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1592, doi. 10.1093/hmg/ddr596
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- Publication type:
- Article
Cut-like homeobox 1 and nuclear factor I/B mediate ENGRAILED2 autism spectrum disorder-associated haplotype function.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1566, doi. 10.1093/hmg/ddr594
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- Publication type:
- Article
Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1604, doi. 10.1093/hmg/ddr598
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- Publication type:
- Article
An eQTL-based method identifies CTTN and ZMAT3 as pemetrexed susceptibility markers.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1470, doi. 10.1093/hmg/ddr583
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- Publication type:
- Article