Identification and characterization of a novel RPGR isoform in human retina.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 797, doi. 10.1002/humu.20521
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 8
Results: 12
1
2
Mutations and polymorphisms in the human N-acetylglutamate synthase ( NAGS) gene.
- Published in:
- 2007
- By:
- Publication type:
- Other
3
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 830, doi. 10.1002/humu.9502
- By:
- Publication type:
- Article
4
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 808, doi. 10.1002/humu.20525
- By:
- Publication type:
- Article
5
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 781, doi. 10.1002/humu.20513
- By:
- Publication type:
- Article
6
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 771, doi. 10.1002/humu.20499
- By:
- Publication type:
- Article
7
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 790, doi. 10.1002/humu.20517
- By:
- Publication type:
- Article
8
Effective detection of corrected dystrophin loci in mdx mouse myogenic precursors.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 816, doi. 10.1002/humu.20494
- By:
- Publication type:
- Article
9
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 743, doi. 10.1002/humu.20501
- By:
- Publication type:
- Article
10
Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature.
- Published in:
- 2007
- By:
- Publication type:
- Other
11
Functional profiling of uncommon VCAM1 promoter polymorphisms prevalent in African American populations.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 824, doi. 10.1002/humu.20523
- By:
- Publication type:
- Article
12
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 830, doi. 10.1002/humu.9503
- By:
- Publication type:
- Article