Found: 4
Select item for more details and to access through your institution.
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5
- By:
- Publication type:
- Article
The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.
- Published in:
- Human Genetics, 2008, v. 124, n. 4, p. 369, doi. 10.1007/s00439-008-0562-0
- By:
- Publication type:
- Article
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 8, p. 1595, doi. 10.1093/hmg/ddr037
- By:
- Publication type:
- Article
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 796, doi. 10.1038/ejhg.2014.181
- By:
- Publication type:
- Article