Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 3
Results: 16
Heterozygous Endothelin Receptor B (EDNRBMutations in Isolated Hirschsprung Disease.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 355, doi. 10.1093/hmg/5.3.355
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- Article
Novel Mutations of the Endothelin-B Receptor Gene in Isolated Patients with Hirschsprung'S Disease.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 347, doi. 10.1093/hmg/5.3.347
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- Article
Endothelin-B Receptor Mutations in Patients with Isolated Hirschsprung Disease from a Non-Inbred Population.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 351, doi. 10.1093/hmg/5.3.351
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- Article
Dopa-Responsive Dystonia in British Patients: New Mutations of the GTP-Cyclohydrolase I Gene and Evidence for Genetic Heterogeneity.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 403, doi. 10.1093/hmg/5.3.403
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- Article
X Inactivation Analysis and DNA Methylation Studies of the Ubiquitin Activating Enzyme E1 and PCTAIRE-1 Genes in Human and Mouse.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 391, doi. 10.1093/hmg/5.3.391
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- Article
Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 367, doi. 10.1093/hmg/5.3.367
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- Article
cDNA Cloning and Expression of rsca1, the Rat Counterpart of the Human Spinocerebellar Ataxia Type 1 Gene.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 381, doi. 10.1093/hmg/5.3.381
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- Article
Localization of a Non-Specific X-linked Mental Retardation Gene, MRX23, to Xq23–q24.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 411, doi. 10.1093/hmg/5.3.411
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- Article
A Locus for Autosomal Dominant Anterior Polar Cataract on Chromosome 17p.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 415, doi. 10.1093/hmg/5.3.415
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- Article
A Radiation Hybrid Map of the Human Genome.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 339, doi. 10.1093/hmg/5.3.339
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- Article
Characterization of Survival Motor Neuron (SMNT) Gene Deletions in Asymptomatic Carriers of Spinal Muscular Atrophy.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 359, doi. 10.1093/hmg/5.3.359
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- Article
A Unique Origin and Multistep Process for the Generation of Expanded DRPLA Triplet Repeats.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 373, doi. 10.1093/hmg/5.3.373
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- Article
Haplotype and Interspersion Analysis of the FMR1 CGG Repeat Identifies Two Different Mutational Pathways for the Origin of the Fragile X Syndrome.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 319, doi. 10.1093/hmg/5.3.319
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- Article
A Human Modifier of Methylation for Class I HLA Genes (Memo-1) Maps to Chromosomal Bands 1p35–36.1.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 309, doi. 10.1093/hmg/5.3.309
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- Article
Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 407, doi. 10.1093/hmg/5.3.407
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- Article
Chaperonin-mediated Assembly of Wild-Type and Mutant Subunits of Human Propionyl-CoA Carboxylase Expressed in Escherichia Coli.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 331, doi. 10.1093/hmg/5.3.331
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- Article