Works matching IS 14345161 AND DT 1998 AND VI 43 AND IP 2
Results: 14
Retrotransposal integration of mobile genetic elements in human diseases.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 77, doi. 10.1007/s100380050045
- By:
- Publication type:
- Article
Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 cases.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 85, doi. 10.1007/s100380050046
- By:
- Publication type:
- Article
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 91, doi. 10.1007/s100380050047
- By:
- Publication type:
- Article
Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 101, doi. 10.1007/s100380050048
- By:
- Publication type:
- Article
Mutations in the hepatocyte nuclear factor-1α gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 107, doi. 10.1007/s100380050049
- By:
- Publication type:
- Article
Analysis of bilirubin uridine 5′-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 111, doi. 10.1007/s100380050050
- By:
- Publication type:
- Article
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 115, doi. 10.1007/s100380050051
- By:
- Publication type:
- Article
Identification of brain-specific splicing variants of the hDLG1 gene and altered splicing in neuroblastoma cell lines.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 123, doi. 10.1007/s100380050052
- By:
- Publication type:
- Article
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 128, doi. 10.1007/s100380050053
- By:
- Publication type:
- Article
Genomic organization and mapping of the human activin receptor type IIB (hActR-IIB) gene.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 132, doi. 10.1007/s100380050054
- By:
- Publication type:
- Article
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 135, doi. 10.1007/s100380050055
- By:
- Publication type:
- Article
Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 138, doi. 10.1007/s100380050056
- By:
- Publication type:
- Article
Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 143, doi. 10.1007/s100380050057
- By:
- Publication type:
- Article
A polymorphic CA repeat sequence at the human calcitonin locus.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 2, p. 146, doi. 10.1007/s100380050058
- By:
- Publication type:
- Article