Found: 23
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A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2941, doi. 10.1093/hmg/ddt141
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- Article
Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2795, doi. 10.1093/hmg/ddt127
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- Publication type:
- Article
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2905, doi. 10.1093/hmg/ddt145
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- Article
Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2894, doi. 10.1093/hmg/ddt144
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- Article
Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.
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- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2881, doi. 10.1093/hmg/ddt143
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- Article
Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2929, doi. 10.1093/hmg/ddt148
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- Article
Editorial Board.
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- Human Molecular Genetics, 2013, v. 22, n. 14, p. NP, doi. 10.1093/hmg/ddt305
- Publication type:
- Article
DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2820, doi. 10.1093/hmg/ddt131
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- Publication type:
- Article
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2948, doi. 10.1093/hmg/ddt142
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. NP, doi. 10.1093/hmg/ddt306
- Publication type:
- Article
TRAP1 rescues PINK1 loss-of-function phenotypes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2829, doi. 10.1093/hmg/ddt132
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- Publication type:
- Article
Global increases in both common and rare copy number load associated with autism.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2870, doi. 10.1093/hmg/ddt136
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- Publication type:
- Article
Chemical genetic analyses of quantitative changes in Cdk1 activity during the human cell cycle.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2842, doi. 10.1093/hmg/ddt133
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- Publication type:
- Article
Defective skeletal muscle growth in lamin A/C-deficient mice is rescued by loss of Lap2α.
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- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2852, doi. 10.1093/hmg/ddt135
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- Article
Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.
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- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2775, doi. 10.1093/hmg/ddt125
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- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. NP, doi. 10.1093/hmg/ddt304
- Publication type:
- Article
Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2785, doi. 10.1093/hmg/ddt126
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- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. NP, doi. 10.1093/hmg/ddt303
- Publication type:
- Article
Cytosolic proteins lose solubility as amyloid deposits in a transgenic mouse model of Alzheimer-type amyloidosis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2765, doi. 10.1093/hmg/ddt121
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- Publication type:
- Article
Distinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases.
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- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2811, doi. 10.1093/hmg/ddt130
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- Publication type:
- Article
Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease.
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- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2973
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- Article
An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.
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- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2960, doi. 10.1093/hmg/ddt150
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- Publication type:
- Article
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 14, p. 2914, doi. 10.1093/hmg/ddt146
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- Publication type:
- Article