Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 18
Results: 22
Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 3984, doi. 10.1093/hmg/dds221
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- Article
Miller (Genée–Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 3969, doi. 10.1093/hmg/dds218
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- Article
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4084, doi. 10.1093/hmg/dds233
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- Article
A persistent level of Cisd2 extends healthy lifespan and delays aging in mice.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 3956, doi. 10.1093/hmg/dds210
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- Article
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4073, doi. 10.1093/hmg/dds231
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- Article
Epigenetic changes and disturbed neural development in a human embryonic stem cell-based model relating to the fetal valproate syndrome.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4104, doi. 10.1093/hmg/dds239
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- Article
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 3993, doi. 10.1093/hmg/dds222
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- Article
The imprinted NPAP1/C15orf2 gene in the Prader–Willi syndrome region encodes a nuclear pore complex associated protein.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4038, doi. 10.1093/hmg/dds228
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- Article
Functional analyses of coronary artery disease associated variation on chromosome 9p21 in vascular smooth muscle cells.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4021, doi. 10.1093/hmg/dds224
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- Article
Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4007, doi. 10.1093/hmg/dds223
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 18, p. NP, doi. 10.1093/hmg/dds281
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- Article
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4138, doi. 10.1093/hmg/dds225
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- Article
Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4060, doi. 10.1093/hmg/dds230
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- Article
Editorial Board.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. NP, doi. 10.1093/hmg/dds279
- Publication type:
- Article
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4115, doi. 10.1093/hmg/dds241
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- Article
Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4049, doi. 10.1093/hmg/dds229
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- Article
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 3941, doi. 10.1093/hmg/dds181
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- Article
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4094, doi. 10.1093/hmg/dds238
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- Article
Cover Page.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. NP, doi. 10.1093/hmg/dds277
- Publication type:
- Article
Expression of PRPF31 and TFPT: regulation in health and retinal disease.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4126, doi. 10.1093/hmg/dds242
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- Article
Contents Page.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. NP, doi. 10.1093/hmg/dds275
- Publication type:
- Article
Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4030, doi. 10.1093/hmg/dds227
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- Article