Facial clefting in an Arab town in Israel.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 448, doi. 10.1034/j.1399-0004.2002.610609.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2002 AND VI 61 AND IP 6
Results: 14
1
2
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 454, doi. 10.1034/j.1399-0004.2002.610610.x
- By:
- Publication type:
- Article
3
Esophageal and duodenal atresia in a girl with a 12q24.3-qter deletion.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 468, doi. 10.1034/j.1399-0004.2002.610613.x
- By:
- Publication type:
- Article
4
Inherited disorders of cholesterol biosynthesis.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 393, doi. 10.1034/j.1399-0004.2002.610601.x
- By:
- Publication type:
- Article
5
History of genetics through philately: Sir William Osler (1849–1919) and the Osler–Weber–Rendu syndrome.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 404, doi. 10.1034/j.1399-0004.2002.610602.x
- By:
- Publication type:
- Article
6
LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 408, doi. 10.1034/j.1399-0004.2002.610603.x
- By:
- Publication type:
- Article
7
Type III hyperlipoproteinema with apolipoprotein E2/2 genotype in Japan.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 416, doi. 10.1034/j.1399-0004.2002.610604.x
- By:
- Publication type:
- Article
8
Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 423, doi. 10.1034/j.1399-0004.2002.610605.x
- By:
- Publication type:
- Article
9
Effects of apolipoprotein A-IV genotype on glucose and plasma lipoprotein levels.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 430, doi. 10.1034/j.1399-0004.2002.610606.x
- By:
- Publication type:
- Article
10
Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 437, doi. 10.1034/j.1399-0004.2002.610607.x
- By:
- Publication type:
- Article
11
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 443, doi. 10.1034/j.1399-0004.2002.610608.x
- By:
- Publication type:
- Article
12
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 459, doi. 10.1034/j.1399-0004.2002.610611.x
- By:
- Publication type:
- Article
13
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 465, doi. 10.1034/j.1399-0004.2002.610612.x
- By:
- Publication type:
- Article
14
Erratum.
- Published in:
- 2002
- By:
- Publication type:
- Erratum