Found: 19
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HNF1β/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3139, doi. 10.1093/hmg/ddh338
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- Article
Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3241, doi. 10.1093/hmg/ddh343
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- Article
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3219, doi. 10.1093/hmg/ddh342
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- Article
Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3103, doi. 10.1093/hmg/ddh340
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- Publication type:
- Article
A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3045, doi. 10.1093/hmg/ddh339
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- Publication type:
- Article
Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3089, doi. 10.1093/hmg/ddh337
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- Publication type:
- Article
PAX4 gene variations predispose to ketosis-prone diabetes.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3151, doi. 10.1093/hmg/ddh341
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- Publication type:
- Article
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3069, doi. 10.1093/hmg/ddh336
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- Publication type:
- Article
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3127, doi. 10.1093/hmg/ddh335
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- Article
Transcription factor MEF2A mutations in patients with coronary artery disease.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3181, doi. 10.1093/hmg/ddh329
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- Article
Branch site haplotypes that control alternative splicing.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3189
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- Article
Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3203, doi. 10.1093/hmg/ddh332
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- Publication type:
- Article
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3161, doi. 10.1093/hmg/ddh330
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- Article
Heterologous mitochondrial DNA recombination in human cells.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3171, doi. 10.1093/hmg/ddh326
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- Article
MUSK, a new target for mutations causing congenital myasthenic syndrome.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3229, doi. 10.1093/hmg/ddh333
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- Publication type:
- Article
Huntingtin-associated protein 1 (Hap1) mutant mice bypassing the early postnatal lethality are neuroanatomically normal and fertile but display growth retardation.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3115, doi. 10.1093/hmg/ddh328
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- Publication type:
- Article
Prediction of sensitivity of advanced non-small cell lung cancers to gefitinib (Iressa, ZD1839).
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3029, doi. 10.1093/hmg/ddh331
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- Publication type:
- Article
Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3057, doi. 10.1093/hmg/ddh325
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- Article
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3079, doi. 10.1093/hmg/ddh327
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- Article