Found: 8
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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 40, doi. 10.1007/s004390051007
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- Article
Characteristics of nitric oxide synthase type I of rat cerebellar astrocytes.
- Published in:
- Glia, 1996, v. 18, n. 3, p. 224, doi. 10.1002/(SICI)1098-1136(199611)18:3<224::AID-GLIA6>3.0.CO;2-Z
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- Article
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.
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- Human Mutation, 2002, v. 19, n. 4, p. 458, doi. 10.1002/humu.9023
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- Article
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 ( GJB3) gene.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 481, doi. 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7
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- Article
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.
- Published in:
- Human Mutation, 1999, v. 14, n. 6, p. 520, doi. 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K
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- Article
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
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- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2097, doi. 10.1093/hmg/ddg228
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- Article
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947
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- Article
Connexin 31 ( GJB3 ) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947
- By:
- Publication type:
- Article