Found: 36
Select item for more details and to access through your institution.
Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1465
- By:
- Publication type:
- Article
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1463
- By:
- Publication type:
- Article
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1459
- By:
- Publication type:
- Article
Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1453
- By:
- Publication type:
- Article
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1421
- By:
- Publication type:
- Article
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1441
- By:
- Publication type:
- Article
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1435
- By:
- Publication type:
- Article
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1429
- By:
- Publication type:
- Article
A gene for Leber's congenital amaurosis maps to chromosome 17p.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1447
- By:
- Publication type:
- Article
Friedreich's ataxia: a defect in signal transduction?
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1411
- By:
- Publication type:
- Article
Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1403
- By:
- Publication type:
- Article
Expression of the Huntington's disease (IT15) protein product in HD patients.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1365
- By:
- Publication type:
- Article
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1391
- By:
- Publication type:
- Article
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1387
- By:
- Publication type:
- Article
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1381
- By:
- Publication type:
- Article
Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1373
- By:
- Publication type:
- Article
Myotonia levior is a chloride channel disorder.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1397
- By:
- Publication type:
- Article
Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1355
- By:
- Publication type:
- Article
A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1347
- By:
- Publication type:
- Article
A transcribed human sequence related to the mouse HC1 and the human papillomavirus type 18 E5 genes is located at chromosome 7p13–14.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1337
- By:
- Publication type:
- Article
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1331
- By:
- Publication type:
- Article
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1327
- By:
- Publication type:
- Article
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1273
- By:
- Publication type:
- Article
A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1313
- By:
- Publication type:
- Article
Comparison of the positional cloning methods used to isolate the BRCA1 gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1259
- By:
- Publication type:
- Article
Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1291
- By:
- Publication type:
- Article
Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1321
- By:
- Publication type:
- Article
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1285
- By:
- Publication type:
- Article
On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1267
- By:
- Publication type:
- Article
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1305
- By:
- Publication type:
- Article
Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1251
- By:
- Publication type:
- Article
Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1245
- By:
- Publication type:
- Article
A de novo frame-shift mutation in the tuberin gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1471
- By:
- Publication type:
- Article
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1467
- By:
- Publication type:
- Article
An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1474
- By:
- Publication type:
- Article
Author index.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1473
- Publication type:
- Article