Found: 19
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A Stable, Nonsense Mutation Associated with a Case of Infantile Onset Polycystic Kidney Disease 1 (PKD1).
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 539, doi. 10.1093/hmg/5.4.539
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- Article
Mapping of a Second Locus for Lamellar Ichthyosis to Chromosome 2q33–35.
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 555, doi. 10.1093/hmg/5.4.555
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- Article
Cloning and Characterization of the Human Homologue of a Dystrophin Related Phosphoprotein Found at the Torpedo Electric Organ Post-Synaptic Membrane.
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 489, doi. 10.1093/hmg/5.4.489
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- Article
Partial Characterisation of Murine Huntingtin and Apparent Variations in the Subcellular Localisation of Huntingtin in Human, Mouse and Rat Brain.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 481, doi. 10.1093/hmg/5.4.481
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- Article
Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 461, doi. 10.1093/hmg/5.4.461
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- Article
A Ubiquitin C-Terminal Hydrolase Gene on the Proximal Short Arm of the X Chromosome: Implications for X-Linked Retinal Disorders.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 533, doi. 10.1093/hmg/5.4.533
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- Article
A Murine Homologue of the Human Daz Gene Is Autosomal and Expressed only in Male and Female Gonads.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 513, doi. 10.1093/hmg/5.4.513
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- Article
A Cerebellar Ataxia Locus Identified by DNA Pooling to Search for Linkage Disequilibrium in an Isolated Population from the Cayman Islands.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 525, doi. 10.1093/hmg/5.4.525
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- Article
Predominance of Null Mutations in Ataxia-Telangiectasia.
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 433, doi. 10.1093/hmg/5.4.433
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- Article
Xist expression from an Xist YAC transgene carried on the mouse Y chromosome.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 451, doi. 10.1093/hmg/5.4.451
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- Article
Phenotypic Variation in Waardenburg Syndrome: Mutational Heterogeneity, Modifier Genes or Polygenic Background?
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 497, doi. 10.1093/hmg/5.4.497
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- Article
Transgenic Mice Carrying an Xist-Containing YAC.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 441, doi. 10.1093/hmg/5.4.441
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- Article
The Hereditary Pancreatitis Gene Maps to Long Arm of Chromosome 7.
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 549, doi. 10.1093/hmg/5.4.549
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- Article
Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1).
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 509, doi. 10.1093/hmg/5.4.509
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- Article
Do Sequence Variants in the Major Non-Coding Region of the Mitochondrial Genome Influence Mitochondrial Mutations Associated with Disease?
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 473, doi. 10.1093/hmg/5.4.473
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- Article
Breakage in the SNRPN Locus in a Balanced 46,XY,t(15, 19) Prader-Willi Syndrome Patient.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 517, doi. 10.1093/hmg/5.4.517
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- Article
The Gene Responsible for Clouston Hidrotic Ectodermal Dysplasia Maps to the Pericentromeric Region of Chromosome 13q.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 543, doi. 10.1093/hmg/5.4.543
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- Article
Characterization of a Cluster of Sulfatase Genes on Xp22.3 Suggests Gene Duplications in an Ancestral Pseudoautosomal Region.
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 423, doi. 10.1093/hmg/5.4.423
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- Article
Site and Sequence Specific DNA Methylation in the Neurofibromatosis (NF1) Gene Includes C5839T: The Site of the Recurrent Substitution Mutation in Exon 31.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 503, doi. 10.1093/hmg/5.4.503
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- Article