Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 7
Results: 17
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1113, doi. 10.1093/hmg/7.7.1113
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- Article
Reconstitution of wild-type or mutant telomerase activity in telomerase-negative immortal human cells.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1137, doi. 10.1093/hmg/7.7.1137
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- Article
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1133, doi. 10.1093/hmg/7.7.1133
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- Article
Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1129, doi. 10.1093/hmg/7.7.1129
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- Article
Human metalloprotease-disintegrin Kuzbanian regulates sympathoadrenal cell fate in development and neoplasia.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1161, doi. 10.1093/hmg/7.7.1161
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- Article
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1143, doi. 10.1093/hmg/7.7.1143
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- Article
Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1083, doi. 10.1093/hmg/7.7.1083
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- Article
Mutations in the retinal guanylate cyclase ( RETGC-1) gene in dominant cone-rod dystrophy.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1179, doi. 10.1093/hmg/7.7.1179
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- Article
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1063, doi. 10.1093/hmg/7.7.1063
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WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophiladysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1071, doi. 10.1093/hmg/7.7.1071
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- Article
Two frequent missense mutations in Pendred syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1099, doi. 10.1093/hmg/7.7.1099
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Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS).
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1185, doi. 10.1093/hmg/7.7.1185
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- Article
NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1169, doi. 10.1093/hmg/7.7.1169
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- Article
Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1149, doi. 10.1093/hmg/7.7.1149
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- Article
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1091, doi. 10.1093/hmg/7.7.1091
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- Article
Genetic heterogeneity in familial hyperinsulinism.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1119, doi. 10.1093/hmg/7.7.1119
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- Article
Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1105, doi. 10.1093/hmg/7.7.1105
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- Article