Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 3
Results: 10
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 265
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- Article
Age-dependent accumulation of mtDNA mutations in murine hematopoietic stem cells is modulated by the nuclear genetic background.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 286, doi. 10.1093/hmg/ddl457
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- Article
SGCE missense mutations that cause myoclonus-dystonia syndrome impair ɛ-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 327, doi. 10.1093/hmg/ddl472
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- Article
Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 295, doi. 10.1093/hmg/ddl463
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- Article
Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 317, doi. 10.1093/hmg/ddl466
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- Article
A CTCF-binding silencer regulates the imprinted genes AWT1 and WT1-AS and exhibits sequential epigenetic defects during Wilms' tumourigenesis.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 343, doi. 10.1093/hmg/ddl478
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- Article
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 307, doi. 10.1093/hmg/ddl465
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- Article
Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 243, doi. 10.1093/hmg/ddl447
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- Article
The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 276, doi. 10.1093/hmg/ddl455
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- Article
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 254, doi. 10.1093/hmg/ddl448
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- Article