Found: 24
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Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1461, doi. 10.1093/hmg/ddq020
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- Publication type:
- Article
Wnt4/5a signalling coordinates cell adhesion and entry into meiosis during presumptive ovarian follicle development.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1539, doi. 10.1093/hmg/ddq027
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- Article
A primary cilia-dependent etiology for midline facial disorders.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1577, doi. 10.1093/hmg/ddq030
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- Article
Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1593, doi. 10.1093/hmg/ddq031
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- Article
Cover Page.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. NP, doi. 10.1093/hmg/ddq116
- Publication type:
- Article
The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1507
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- Article
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1618, doi. 10.1093/hmg/ddq037
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- Article
Functional analysis of CDKN2A/p16INK4a 5′-UTR variants predisposing to melanoma.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1479, doi. 10.1093/hmg/ddq022
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- Article
A milieu of regulatory elements in the epidermal differentiation complex syntenic block: implications for atopic dermatitis and psoriasis.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1453, doi. 10.1093/hmg/ddq019
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- Article
Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1528, doi. 10.1093/hmg/ddq026
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- Article
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1551, doi. 10.1093/hmg/ddq028
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- Article
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1399, doi. 10.1093/hmg/ddq015
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- Article
Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1603, doi. 10.1093/hmg/ddq036
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- Publication type:
- Article
Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1438, doi. 10.1093/hmg/ddq018
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- Article
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1413, doi. 10.1093/hmg/ddq016
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- Article
Constitutive β-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1561, doi. 10.1093/hmg/ddq029
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- Article
Editorial Board.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. NP, doi. 10.1093/hmg/ddq118
- Publication type:
- Article
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1492, doi. 10.1093/hmg/ddq023
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- Article
DJ-1 deficient mice demonstrate similar vulnerability to pathogenic Ala53Thr human α-syn toxicity.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1425, doi. 10.1093/hmg/ddq017
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- Article
Mouse Prkar1a haploinsufficiency leads to an increase in tumors in the Trp53+/− or Rb1+/− backgrounds and chemically induced skin papillomas by dysregulation of the cell cycle and Wnt signaling.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1387, doi. 10.1093/hmg/ddq014
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- Article
Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in usher syndrome type 1F.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1515, doi. 10.1093/hmg/ddq025
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. NP, doi. 10.1093/hmg/ddq120
- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. NP, doi. 10.1093/hmg/ddq114
- Publication type:
- Article
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1468, doi. 10.1093/hmg/ddq021
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- Publication type:
- Article