Found: 12
Select item for more details and to access through your institution.
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. E866, doi. 10.1002/humu.21073
- By:
- Publication type:
- Article
Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 6, p. 1, doi. 10.1371/journal.pgen.1000522
- By:
- Publication type:
- Article
DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia.
- Published in:
- Respiration, 2008, v. 76, n. 2, p. 198, doi. 10.1159/000128567
- By:
- Publication type:
- Article
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 289, doi. 10.1002/humu.20656
- By:
- Publication type:
- Article
Molecular and Clinical Characteristics in 46 Families Affected with PeutzâJeghers Syndrome.
- Published in:
- Digestive Diseases & Sciences, 2007, v. 52, n. 8, p. 1924
- By:
- Publication type:
- Article
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 23, p. 2829, doi. 10.1093/hmg/11.23.2829
- By:
- Publication type:
- Article
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
- Published in:
- Journal of Molecular Medicine, 2002, v. 80, n. 2, p. 124, doi. 10.1007/s00109-001-0310-6
- By:
- Publication type:
- Article
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 569, doi. 10.1007/s004390100607
- By:
- Publication type:
- Article
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
- Published in:
- Human Mutation, 2001, v. 18, n. 2, p. 101, doi. 10.1002/humu.1159
- By:
- Publication type:
- Article
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.
- Published in:
- Human Genetics, 2001, v. 108, n. 2, p. 140, doi. 10.1007/s004390000453
- By:
- Publication type:
- Article
Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
- Published in:
- Nature Genetics, 2001, v. 27, n. 1, p. 59, doi. 10.1038/83768
- By:
- Publication type:
- Article
Mutation analyses of North American APS-1 patients.
- Published in:
- Human Mutation, 1999, v. 13, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6
- By:
- Publication type:
- Article