Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 5
Results: 23
Contents Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. NP, doi. 10.1093/hmg/ddr009
- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. NP, doi. 10.1093/hmg/ddr010
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. NP, doi. 10.1093/hmg/ddr012
- Publication type:
- Article
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 975, doi. 10.1093/hmg/ddq543
- By:
- Publication type:
- Article
A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 941, doi. 10.1093/hmg/ddq539
- By:
- Publication type:
- Article
A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 948, doi. 10.1093/hmg/ddq541
- By:
- Publication type:
- Article
Bioenergetics of neurons inhibit the translocation response of Parkin following rapid mitochondrial depolarization.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 927, doi. 10.1093/hmg/ddq531
- By:
- Publication type:
- Article
Downregulation of NCC and NKCC2 cotransporters by kidney-specific WNK1 revealed by gene disruption and transgenic mouse models.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 855, doi. 10.1093/hmg/ddq525
- By:
- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. NP, doi. 10.1093/hmg/ddr011
- Publication type:
- Article
Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 905, doi. 10.1093/hmg/ddq529
- By:
- Publication type:
- Article
PINK1 cleavage at position A103 by the mitochondrial protease PARL.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 867, doi. 10.1093/hmg/ddq526
- By:
- Publication type:
- Article
Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 1034, doi. 10.1093/hmg/ddq537
- By:
- Publication type:
- Article
Amniocytes can serve a dual function as a source of iPS cells and feeder layers.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 962, doi. 10.1093/hmg/ddq542
- By:
- Publication type:
- Article
A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 988, doi. 10.1093/hmg/ddq544
- By:
- Publication type:
- Article
Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 917, doi. 10.1093/hmg/ddq530
- By:
- Publication type:
- Article
The unfolded protein response in familial amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 1008, doi. 10.1093/hmg/ddq546
- By:
- Publication type:
- Article
Dense mapping of IL18 shows no association in SLE.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 1026, doi. 10.1093/hmg/ddq536
- By:
- Publication type:
- Article
SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 894, doi. 10.1093/hmg/ddq528
- By:
- Publication type:
- Article
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 1042, doi. 10.1093/hmg/ddq538
- By:
- Publication type:
- Article
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 1048, doi. 10.1093/hmg/ddq540
- By:
- Publication type:
- Article
Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 880, doi. 10.1093/hmg/ddq527
- By:
- Publication type:
- Article
Secretin deficiency causes impairment in survival of neural progenitor cells in mice.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 1000, doi. 10.1093/hmg/ddq545
- By:
- Publication type:
- Article
MSX1 and TGF-β3 are novel target genes functionally regulated by FOXE1.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 5, p. 1016, doi. 10.1093/hmg/ddq547
- By:
- Publication type:
- Article