Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 13
Results: 22
Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2611
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- Publication type:
- Article
Functional significance of mutations in the Snf2 domain of ATRX.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2603, doi. 10.1093/hmg/ddr163
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- Article
Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2642, doi. 10.1093/hmg/ddr166
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. NP, doi. 10.1093/hmg/ddr233
- Publication type:
- Article
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2524, doi. 10.1093/hmg/ddr151
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- Article
Contents Page.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. NP, doi. 10.1093/hmg/ddr230
- Publication type:
- Article
Muscle pathology without severe nerve pathology in a new mouse model of Charcot–Marie–Tooth disease type 2E.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2535, doi. 10.1093/hmg/ddr152
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- Article
Molecular and cellular characterization of novel α-mannosidosis mutations.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2651, doi. 10.1093/hmg/ddr167
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- Article
The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2560, doi. 10.1093/hmg/ddr155
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- Article
A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2510, doi. 10.1093/hmg/ddr150
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- Article
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2585, doi. 10.1093/hmg/ddr158
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- Article
Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2571, doi. 10.1093/hmg/ddr157
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- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. NP, doi. 10.1093/hmg/ddr231
- Publication type:
- Article
Peripheral nerve pathology, including aberrant Schwann cell differentiation, is ameliorated by doxycycline in a laminin-α2-deficient mouse model of congenital muscular dystrophy.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2662, doi. 10.1093/hmg/ddr168
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- Article
The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2680
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- Publication type:
- Article
Impaired mitochondrial dynamics and abnormal interaction of amyloid beta with mitochondrial protein Drp1 in neurons from patients with Alzheimer's disease: implications for neuronal damage.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2495, doi. 10.1093/hmg/ddr139
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. NP, doi. 10.1093/hmg/ddr232
- Publication type:
- Article
Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2673, doi. 10.1093/hmg/ddr154
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- Publication type:
- Article
Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2549, doi. 10.1093/hmg/ddr153
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- Article
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2628, doi. 10.1093/hmg/ddr165
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- Article
Phenotype mining in CNV carriers from a population cohort†.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2686
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- Article
Analysis of a breakpoint cluster reveals insight into the mechanism of intrachromosomal amplification in a lymphoid malignancy.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2591, doi. 10.1093/hmg/ddr159
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- Publication type:
- Article