Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 23
Results: 24
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3643, doi. 10.1093/hmg/ddn258
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- Article
Mitochondrial processes are impaired in hereditary inclusion body myopathy.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3663, doi. 10.1093/hmg/ddn261
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- Article
A SQSTM1/p62 mutation linked to Paget’s disease increases the osteoclastogenic potential of the bone microenvironment.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3708, doi. 10.1093/hmg/ddn266
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- Article
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3697, doi. 10.1093/hmg/ddn265
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- Article
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3796, doi. 10.1093/hmg/ddn277
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- Article
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3776, doi. 10.1093/hmg/ddn274
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- Article
Editorial Board.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. NP, doi. 10.1093/hmg/ddn366
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- Article
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3617, doi. 10.1093/hmg/ddn256
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- Article
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3631, doi. 10.1093/hmg/ddn257
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- Article
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3655, doi. 10.1093/hmg/ddn260
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- Article
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3822, doi. 10.1093/hmg/ddn280
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- Article
Cover Page.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. NP, doi. 10.1093/hmg/ddn367
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- Article
Akt activation prevents the force drop induced by eccentric contractions in dystrophin-deficient skeletal muscle.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3686, doi. 10.1093/hmg/ddn264
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- Article
Gene–environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3675, doi. 10.1093/hmg/ddn262
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- Article
Identification of Arx transcriptional targets in the developing basal forebrain.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3740, doi. 10.1093/hmg/ddn271
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- Article
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith–Lemli–Opitz syndrome.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3806, doi. 10.1093/hmg/ddn278
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- Article
Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3761, doi. 10.1093/hmg/ddn272
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- Article
Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3814, doi. 10.1093/hmg/ddn279
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- Article
Contents Page.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. NP, doi. 10.1093/hmg/ddn364
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- Article
Inhibition of specific HDACs and sirtuins suppresses pathogenesis in a Drosophila model of Huntington’s disease.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3767, doi. 10.1093/hmg/ddn273
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- Article
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3720
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 23, p. NP, doi. 10.1093/hmg/ddn365
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- Article
Novel suppressors of α-synuclein toxicity identified using yeast.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3784, doi. 10.1093/hmg/ddn276
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- Article
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
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- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3728, doi. 10.1093/hmg/ddn269
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- Article