Molecular genetic advances in tuberous sclerosis.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 97, doi. 10.1007/s004390000348
- By:
- Publication type:
- Article
Works matching IS 03406717 AND DT 2000 AND VI 107 AND IP 2
Results: 14
1
2
Genetic association studies of bronchial asthma--a need for Bonferroni correction?
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 197, doi. 10.1007/s004390000353
- Publication type:
- Article
3
Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 192, doi. 10.1007/s004390000342
- Publication type:
- Article
4
Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 115, doi. 10.1007/s004390000347
- By:
- Publication type:
- Article
5
Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 186, doi. 10.1007/s004390000290
- By:
- Publication type:
- Article
6
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 176, doi. 10.1007/s004390000351
- By:
- Publication type:
- Article
7
Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 165, doi. 10.1007/s004390000344
- By:
- Publication type:
- Article
8
Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 195, doi. 10.1007/s004390000349
- By:
- Publication type:
- Article
9
Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 138, doi. 10.1007/s004390000345
- By:
- Publication type:
- Article
10
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 145, doi. 10.1007/s004390000352
- By:
- Publication type:
- Article
11
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 127, doi. 10.1007/s004390000343
- By:
- Publication type:
- Article
12
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutations.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 160, doi. 10.1007/s004390000359
- By:
- Publication type:
- Article
13
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 150, doi. 10.1007/s004390000323
- By:
- Publication type:
- Article
14
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 132, doi. 10.1007/s004390000346
- By:
- Publication type:
- Article