Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 536, doi. 10.1034/j.1399-0004.2003.00081.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2003 AND VI 63 AND IP 6
Results: 16
1
2
Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 530, doi. 10.1034/j.1399-0004.2003.00082.x
- By:
- Publication type:
- Article
3
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 462, doi. 10.1034/j.1399-0004.2003.00093.x
- By:
- Publication type:
- Article
4
A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 522, doi. 10.1034/j.1399-0004.2003.00033.x
- By:
- Publication type:
- Article
5
Low prevalence of the deafness-associated 35delG mutation in the connexin-26 (GJB2) gene in a Sicilian population.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 541, doi. 10.1034/j.1399-0004.2003.00071.x
- By:
- Publication type:
- Article
6
Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 510, doi. 10.1034/j.1399-0004.2003.00075.x
- By:
- Publication type:
- Article
7
Analysis of splice-site mutations of the α-galactosidase A gene in Fabry disease.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 476, doi. 10.1034/j.1399-0004.2003.00077.x
- By:
- Publication type:
- Article
8
Intact fetal cell isolation from maternal blood: improved isolation using a simple whole blood progenitor cell enrichment approach (RosetteSep<sup>™</sup> ).
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 483, doi. 10.1034/j.1399-0004.2003.00087.x
- By:
- Publication type:
- Article
9
Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 490, doi. 10.1034/j.1399-0004.2003.00078.x
- By:
- Publication type:
- Article
10
A novel dominant missense mutation – D179N – in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 516, doi. 10.1034/j.1399-0004.2003.00079.x
- By:
- Publication type:
- Article
11
Ion-ing out the genetic basis of peripheral neuropathy associated with agenesis of the corpus callosum: mutations in a cation transporter cause ACCPN.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 456, doi. 10.1034/j.1399-0004.2003.00095.x
- By:
- Publication type:
- Article
12
Ankyrin-B mutations in familial cardiac arrhythmia.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 458, doi. 10.1034/j.1399-0004.2003.t01-1-00095.x
- By:
- Publication type:
- Article
13
Gene discovery in the allelic disorders Smith–McCort Dysplasia and Dyggve–Melchior–Clausen syndrome.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 460, doi. 10.1034/j.1399-0004.2003.t01-2-00095.x
- By:
- Publication type:
- Article
14
Development of the thyroid gland: lessons from congenitally hypothyroid mice and men.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 445, doi. 10.1034/j.1399-0004.2003.00107.x
- By:
- Publication type:
- Article
15
The molecular genetics of Usher syndrome.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 431, doi. 10.1034/j.1399-0004.2003.00109.x
- By:
- Publication type:
- Article
16
Author, Subject and Volume Indices.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 543, doi. 10.1034/j.1399-0004.2003.00110.x
- Publication type:
- Article