Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 8
Results: 24
Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1808, doi. 10.1093/hmg/ddr613
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- Article
Impaired neural development in a zebrafish model for Lowe syndrome.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1744, doi. 10.1093/hmg/ddr608
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- Article
Subscription Page.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. NP, doi. 10.1093/hmg/dds081
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- Article
Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1848, doi. 10.1093/hmg/ddr616
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- Article
Tau's role in the developing brain: implications for intellectual disability.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1681, doi. 10.1093/hmg/ddr603
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Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1782, doi. 10.1093/hmg/ddr611
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- Article
Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1888, doi. 10.1093/hmg/dds002
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- Article
Cover Page.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. NP, doi. 10.1093/hmg/dds079
- Publication type:
- Article
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1706, doi. 10.1093/hmg/ddr605
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- Article
Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1824, doi. 10.1093/hmg/ddr614
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- Article
parkin-induced defects in neurophysiology and locomotion are generated by metabolic dysfunction and not oxidative stress.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1760, doi. 10.1093/hmg/ddr609
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- Article
Sustained expression of PGC-1α in the rat nigrostriatal system selectively impairs dopaminergic function.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1861, doi. 10.1093/hmg/ddr618
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- Article
Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1673, doi. 10.1093/hmg/ddr602
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 8, p. NP, doi. 10.1093/hmg/dds080
- Publication type:
- Article
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1835, doi. 10.1093/hmg/ddr615
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- Article
Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1918, doi. 10.1093/hmg/ddr619
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- Article
Novel pharmacological chaperones that correct phenylketonuria in mice.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1877, doi. 10.1093/hmg/dds001
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- Article
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1794, doi. 10.1093/hmg/ddr612
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- Article
Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1770, doi. 10.1093/hmg/ddr610
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- Article
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1897, doi. 10.1093/hmg/ddr607
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- Article
PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1725, doi. 10.1093/hmg/ddr606
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- Article
Silencing of multi-copy HPV16 by viral self-methylation and chromatin occlusion: a model for epigenetic virus–host interaction.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1693, doi. 10.1093/hmg/ddr604
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- Article
Contents Page.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. NP, doi. 10.1093/hmg/dds078
- Publication type:
- Article
Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1907, doi. 10.1093/hmg/ddr617
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- Article