Found: 25
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Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4905, doi. 10.1093/hmg/ddp458
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- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. NP, doi. 10.1093/hmg/ddp492
- Publication type:
- Article
Detecting natural selection by empirical comparison to random regions of the genome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4853, doi. 10.1093/hmg/ddp457
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- Article
A new mouse model for the trisomy of the Abcg1–U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4756, doi. 10.1093/hmg/ddp438
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- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. NP, doi. 10.1093/hmg/ddp491
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- Article
Adenosine deamination in human transcripts generates novel microRNA binding sites.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4801, doi. 10.1093/hmg/ddp443
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- Article
The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4689, doi. 10.1093/hmg/ddp432
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- Article
Identification of a microRNA signature associated with progression of leukoplakia to oral carcinoma.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4818, doi. 10.1093/hmg/ddp446
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- Article
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4907, doi. 10.1093/hmg/ddp461
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- Article
EKV mutant connexin 31 associated cell death is mediated by ER stress.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4734, doi. 10.1093/hmg/ddp436
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- Article
Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4711, doi. 10.1093/hmg/ddp434
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- Article
Selective neuronal requirement for huntingtin in the developing zebrafish.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4830, doi. 10.1093/hmg/ddp455
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. NP, doi. 10.1093/hmg/ddp493
- Publication type:
- Article
Epigenetic profiling of somatic tissues from human autopsy specimens identifies tissue- and individual-specific DNA methylation patterns.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4808, doi. 10.1093/hmg/ddp445
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- Publication type:
- Article
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4781, doi. 10.1093/hmg/ddp441
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- Article
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4868, doi. 10.1093/hmg/ddp460
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. NP, doi. 10.1093/hmg/ddp494
- Publication type:
- Article
AIRE activated tissue specific genes have histone modifications associated with inactive chromatin.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4699, doi. 10.1093/hmg/ddp433
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- Article
Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4843, doi. 10.1093/hmg/ddp456
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- Article
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4879, doi. 10.1093/hmg/ddp444
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- Article
Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4770, doi. 10.1093/hmg/ddp440
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- Article
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4724, doi. 10.1093/hmg/ddp435
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- Article
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders†.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4791, doi. 10.1093/hmg/ddp442
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- Article
Genetic association of FOXO1A and FOXO3A with longevity trait in Han Chinese populations.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4897, doi. 10.1093/hmg/ddp459
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- Article
Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay†.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4746, doi. 10.1093/hmg/ddp437
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- Article