Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 203
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2001 AND VI 59 AND IP 3
Results: 12
1
2
The use of intragenic polymorphisms in determination of the genomic relevance of whole-exon deletions in MLH1 and MSH2.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 201, doi. 10.1034/j.1399-0004.2001.590311.x
- By:
- Publication type:
- Article
3
Familial aggregation of QT-interval variability in a general population: results from the NHLBI Family Heart Study.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 171, doi. 10.1034/j.1399-0004.2001.590305.x
- By:
- Publication type:
- Article
4
Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 194, doi. 10.1034/j.1399-0004.2001.590309.x
- By:
- Publication type:
- Article
5
Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 189, doi. 10.1034/j.1399-0004.2001.590308.x
- By:
- Publication type:
- Article
6
Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 185, doi. 10.1034/j.1399-0004.2001.590307.x
- By:
- Publication type:
- Article
7
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 178, doi. 10.1034/j.1399-0004.2001.590306.x
- By:
- Publication type:
- Article
8
Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 198, doi. 10.1034/j.1399-0004.2001.590310.x
- By:
- Publication type:
- Article
9
Shakespeare as a geneticist.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 165, doi. 10.1034/j.1399-0004.2001.590304.x
- By:
- Publication type:
- Article
10
Developmental Biology: Frontiers for Clinical Genetics.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 156
- By:
- Publication type:
- Article
11
HotSpots.
- Published in:
- 2001
- By:
- Publication type:
- Abstract
12
Multicultural education and genetic counseling.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 3, p. 143, doi. 10.1034/j.1399-0004.2001.590301.x
- By:
- Publication type:
- Article