Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 22
Results: 31
Contents Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. NP, doi. 10.1093/hmg/ddu547
- Publication type:
- Article
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6069, doi. 10.1093/hmg/ddu306
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- Article
Whole-exome sequencing of endometriosis identifies frequent alterations in genes involved in cell adhesion and chromatin-remodeling complexes.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6008, doi. 10.1093/hmg/ddu330
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- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. NP, doi. 10.1093/hmg/ddu549
- Publication type:
- Article
An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5976, doi. 10.1093/hmg/ddu321
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- Publication type:
- Article
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6034, doi. 10.1093/hmg/ddu300
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- Article
Pathway analysis of cervical cancer genome-wide association study highlights the MHC region and pathways involved in response to infection.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6047, doi. 10.1093/hmg/ddu304
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- Publication type:
- Article
Excess of homozygosity in the major histocompatibility complex in schizophrenia.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6088, doi. 10.1093/hmg/ddu308
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- Publication type:
- Article
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6119, doi. 10.1093/hmg/ddu315
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- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. NP, doi. 10.1093/hmg/ddu548
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. NP, doi. 10.1093/hmg/ddu550
- Publication type:
- Article
Golgi fragmentation in pmn mice is due to a defective ARF1/TBCE cross-talk that coordinates COPI vesicle formation and tubulin polymerization.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5961, doi. 10.1093/hmg/ddu320
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- Publication type:
- Article
Linking the genetic architecture of cytosine modifications with human complex traits.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5893, doi. 10.1093/hmg/ddu313
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- Publication type:
- Article
Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6061, doi. 10.1093/hmg/ddu305
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- Publication type:
- Article
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6096
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- Publication type:
- Article
CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6129, doi. 10.1093/hmg/ddu322
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- Publication type:
- Article
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5998, doi. 10.1093/hmg/ddu329
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- Publication type:
- Article
CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5906, doi. 10.1093/hmg/ddu314
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- Publication type:
- Article
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5940, doi. 10.1093/hmg/ddu318
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- Publication type:
- Article
Most common ‘sporadic’ cancers have a significant germline genetic component.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6112, doi. 10.1093/hmg/ddu312
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- Publication type:
- Article
Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi–Goutières syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5950, doi. 10.1093/hmg/ddu319
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- Publication type:
- Article
Ubiquitin-specific protease-14 reduces cellular aggregates and protects against mutant huntingtin-induced cell degeneration: involvement of the proteasome and ER stress-activated kinase IRE1α.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5928, doi. 10.1093/hmg/ddu317
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- Publication type:
- Article
Neuropeptide precursor VGF is genetically associated with social anhedonia and underrepresented in the brain of major mental illness: its downregulation by DISC1.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5859, doi. 10.1093/hmg/ddu303
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- Publication type:
- Article
Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes.
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- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5866, doi. 10.1093/hmg/ddu309
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- Publication type:
- Article
Genetic prion disease: no role for the immune system in disease pathogenesis?
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6138, doi. 10.1093/hmg/ddu463
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- Publication type:
- Article
Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5989, doi. 10.1093/hmg/ddu323
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- Publication type:
- Article
Caenorhabditis elegans dnj-14, the orthologue of the DNAJC5 gene mutated in adult onset neuronal ceroid lipofuscinosis, provides a new platform for neuroprotective drug screening and identifies a SIR-2.1-independent action of resveratrol.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5916, doi. 10.1093/hmg/ddu316
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- Publication type:
- Article
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann–Pick C1 (NPC1).
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6022, doi. 10.1093/hmg/ddu331
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- Publication type:
- Article
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6081, doi. 10.1093/hmg/ddu307
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- Publication type:
- Article
Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5879, doi. 10.1093/hmg/ddu310
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- Publication type:
- Article
Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 6137, doi. 10.1093/hmg/ddu452
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- Publication type:
- Article