Found: 14
Select item for more details and to access through your institution.
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 1, doi. 10.1002/humu.1144
- By:
- Publication type:
- Article
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 13, doi. 10.1002/humu.1145
- By:
- Publication type:
- Article
Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 25, doi. 10.1002/humu.1146
- By:
- Publication type:
- Article
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 32, doi. 10.1002/humu.1147
- By:
- Publication type:
- Article
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 42, doi. 10.1002/humu.1148
- By:
- Publication type:
- Article
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 52, doi. 10.1002/humu.1149
- By:
- Publication type:
- Article
Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 61, doi. 10.1002/humu.1150
- By:
- Publication type:
- Article
Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 70, doi. 10.1002/humu.1151
- By:
- Publication type:
- Article
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 82, doi. 10.1002/humu.1152
- By:
- Publication type:
- Article
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 83, doi. 10.1002/humu.1153
- By:
- Publication type:
- Article
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 83, doi. 10.1002/humu.1154
- By:
- Publication type:
- Article
Pattern of connexin 26 ( GJB2) mutations causing sensorineural hearing impairment in Ghana.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 84, doi. 10.1002/humu.1156
- By:
- Publication type:
- Article
Molecular analysis of Bruton's tyrosine kinase gene in Spain.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 84, doi. 10.1002/humu.1155
- By:
- Publication type:
- Article
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 85, doi. 10.1002/humu.1157
- By:
- Publication type:
- Article