Works matching IS 00099163 AND DT 2005 AND VI 68 AND IP 6
Results: 23
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high-resolution CGH and multiplex FISH analyses.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 513, doi. 10.1111/j.1399-0004.2005.00523.x
- By:
- Publication type:
- Article
COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 520, doi. 10.1111/j.1399-0004.2005.00527.x
- By:
- Publication type:
- Article
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 524, doi. 10.1111/j.1399-0004.2005.00528.x
- By:
- Publication type:
- Article
GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Split Hand Foot Malformation (SHFM).
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 501, doi. 10.1111/j.1399-0004.2005.00530.x
- By:
- Publication type:
- Article
Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Three-allele risk haplotype of ENPP1 links obesity to type 2 diabetes risk.
- Published in:
- 2005
- By:
- Publication type:
- Other
Endosomal damage has gone to our heads.
- Published in:
- 2005
- By:
- Publication type:
- Other
CDKL5 and MeCP2: partners in Rett pathogenesis.
- Published in:
- 2005
- By:
- Publication type:
- Other
Pachydermoperiostosis: an update.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 477, doi. 10.1111/j.1399-0004.2005.00533.x
- By:
- Publication type:
- Article
Molecular genetics of the early development of hindbrain serotonergic neurons.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 487, doi. 10.1111/j.1399-0004.2005.00534.x
- By:
- Publication type:
- Article
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys–Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 533, doi. 10.1111/j.1399-0004.2005.00537.x
- By:
- Publication type:
- Article
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 542, doi. 10.1111/j.1399-0004.2005.00538.x
- By:
- Publication type:
- Article
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK – implications for genetic testing.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 506, doi. 10.1111/j.1399-0004.2005.00539.x
- By:
- Publication type:
- Article
Severe autosomal dominant upper-limb mesomelic dysplasia: report of a second family.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Corrigendum.
- Published in:
- 2005
- Publication type:
- Correction Notice
Introduction to Social and Behavioral Research in Genetics.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. 571, doi. 10.1111/j.1399-0004.2005.00549.x
- By:
- Publication type:
- Article
Author index.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. i, doi. 10.1111/j.1399-0004.2005.0author.x
- Publication type:
- Article
Subject index.
- Published in:
- Clinical Genetics, 2005, v. 68, n. 6, p. iv, doi. 10.1111/j.1399-0004.2005.0keyword.x
- Publication type:
- Article