Found: 21
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Molecular and phenotypic variation in patients with severe Hunter syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 3, p. 479, doi. 10.1093/hmg/6.3.479
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- Article
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 473, doi. 10.1093/hmg/6.3.473
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- Article
Association of the Steroid Synthesis Gene Cyp11a with Polycystic Ovary Syndrome and Hyperandrogenism.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 397, doi. 10.1093/hmg/6.3.397
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- Article
The Mottled Mouse as a Model for Human Menkes Disease: Identification of Mutations in the Atp7a Gene.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 425, doi. 10.1093/hmg/6.3.425
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- Article
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 3, p. 497, doi. 10.1093/hmg/6.3.497
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- Article
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 3, p. 465, doi. 10.1093/hmg/6.3.465
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- Article
HIP-I: A huntingtin interacting protein isolated by the yeast two-hybrid system.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 3, p. 487, doi. 10.1093/hmg/6.3.487
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- Article
CORRIGENDUM: The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 502, doi. 10.1093/hmg/6.3.502
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- Article
Pituitary homeobox 2, a novel member of the b/co/d-related family of homeobox genes, is a potential regulator of anterior structure formation.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 457, doi. 10.1093/hmg/6.3.457
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- Article
Mosaic methylation of the repeat unit of the human ribosomal RNA genes.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 451, doi. 10.1093/hmg/6.3.451
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- Article
Disruption of the Clathrin Heavy Chain-Like Gene (CLTCL) Associated with Features of DGS/VCFS: A Balanced (21;22)(p12;q11) Translocation.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 3, p. 357, doi. 10.1093/hmg/6.3.357
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- Article
Perinatal Lethality and Multiple Craniofacial Malformations in MSX2 Transgenic Mice.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 369, doi. 10.1093/hmg/6.3.369
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- Article
Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 403, doi. 10.1093/hmg/6.3.403
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- Article
Immunocytochemical Localization of the Menkes Copper Transport Protein (ATP7A) to the Trans-Golgi Network.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 409, doi. 10.1093/hmg/6.3.409
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- Article
High Throughput Parallel Analysis of Hundreds of Patient Samples for More Than 100 Mutations in Multiple Disease Genes.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 337, doi. 10.1093/hmg/6.3.337
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- Article
Functional Analysis of Paired Box Missense Mutations in The PAX6 Gene.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 381, doi. 10.1093/hmg/6.3.381
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- Article
FMR2 Expression in Families with Fraxe Mental Retardation.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 435, doi. 10.1093/hmg/6.3.435
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- Publication type:
- Article
Mutation Analysis Provides Additional Proof That Mottled is the Mouse Homologue of Menkes' Disease.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 417, doi. 10.1093/hmg/6.3.417
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- Publication type:
- Article
Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 387, doi. 10.1093/hmg/6.3.387
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- Article
Destabilization of CAG Trinucleotide Repeat Tracts by Mismatch Repair Mutations in Yeast.
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- Human Molecular Genetics, 1997, v. 6, n. 3, p. 349, doi. 10.1093/hmg/6.3.349
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- Publication type:
- Article
Molecular Phenotype of a Human Lymphoblastoid Cell-line Homoplasmic for the np 7445 Deafness-associated Mitochondrial Mutation.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 3, p. 443, doi. 10.1093/hmg/6.3.443
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- Publication type:
- Article