Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 7
Results: 27
Functional characterization of SIM1-associated enhancers.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1700, doi. 10.1093/hmg/ddt559
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. NP, doi. 10.1093/hmg/ddu110
- Publication type:
- Article
α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1879, doi. 10.1093/hmg/ddt580
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- Article
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1916
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- Article
Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1829, doi. 10.1093/hmg/ddt576
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- Article
Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1709, doi. 10.1093/hmg/ddt560
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- Article
Hypomethylation signature of tumor-initiating cells predicts poor prognosis of ovarian cancer patients.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1894, doi. 10.1093/hmg/ddt583
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- Article
Comparative receptor tyrosine kinase profiling identifies a novel role for AXL in human stem cell pluripotency.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1802, doi. 10.1093/hmg/ddt571
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- Article
A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1934, doi. 10.1093/hmg/ddt581
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- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. NP, doi. 10.1093/hmg/ddu108
- Publication type:
- Article
Membrane damage-induced vesicle–vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1677, doi. 10.1093/hmg/ddt557
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- Article
Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1687, doi. 10.1093/hmg/ddt558
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- Article
Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1742, doi. 10.1093/hmg/ddt562
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- Article
DNAJC13 mutations in Parkinson disease.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1794
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- Publication type:
- Article
Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1869, doi. 10.1093/hmg/ddt579
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- Article
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1923, doi. 10.1093/hmg/ddt575
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- Article
Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1771, doi. 10.1093/hmg/ddt568
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- Article
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1842, doi. 10.1093/hmg/ddt577
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- Article
P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1723, doi. 10.1093/hmg/ddt561
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- Publication type:
- Article
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1856, doi. 10.1093/hmg/ddt578
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- Article
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1907, doi. 10.1093/hmg/ddt585
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- Article
Contents Page.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. NP, doi. 10.1093/hmg/ddu107
- Publication type:
- Article
SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1754, doi. 10.1093/hmg/ddt567
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- Article
Sex- and age-interacting eQTLs in human complex diseases.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1947, doi. 10.1093/hmg/ddt582
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- Article
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1817, doi. 10.1093/hmg/ddt573
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. NP, doi. 10.1093/hmg/ddu109
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- Article
Functional microRNAs and target sites are created by lineage-specific transposition.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1783, doi. 10.1093/hmg/ddt569
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- Article