MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 232, doi. 10.1111/j.1399-0004.2007.00751.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2007 AND VI 71 AND IP 3
Results: 16
1
2
Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom.
- Published in:
- 2007
- By:
- Publication type:
- Letter
3
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 205, doi. 10.1111/j.1399-0004.2007.00769.x
- By:
- Publication type:
- Article
4
Disruption of Friend of GATA 2 gene ( FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 195, doi. 10.1111/j.1399-0004.2007.00752.x
- By:
- Publication type:
- Article
5
Interactions and associations of paraoxonase gene cluster polymorphisms with myocardial infarction in a Pakistani population.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 238, doi. 10.1111/j.1399-0004.2007.00753.x
- By:
- Publication type:
- Article
6
Associations between USF1 gene variants and cardiovascular risk factors in the Quebec Family Study.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 245, doi. 10.1111/j.1399-0004.2007.00755.x
- By:
- Publication type:
- Article
7
Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost-consequences analysis.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 254, doi. 10.1111/j.1399-0004.2007.00756.x
- By:
- Publication type:
- Article
8
Interstitial deletions of chromosome 6q: genotype–phenotype correlation utilizing array CGH.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 260, doi. 10.1111/j.1399-0004.2007.00757.x
- By:
- Publication type:
- Article
9
A family with lymphoedema-distichiasis where identical twins have a discordant phenotype.
- Published in:
- 2007
- By:
- Publication type:
- Letter
10
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
- Published in:
- 2007
- By:
- Publication type:
- Letter
11
Corrigendum.
- Published in:
- 2007
- Publication type:
- Correction Notice
12
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1–p13.3.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 212, doi. 10.1111/j.1399-0004.2007.00762.x
- By:
- Publication type:
- Article
13
Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 267, doi. 10.1111/j.1399-0004.2007.00763.x
- By:
- Publication type:
- Article
14
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 273, doi. 10.1111/j.1399-0004.2007.00767.x
- By:
- Publication type:
- Article
15
Expanding the phenotypic spectrum of Caffey disease.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 280, doi. 10.1111/j.1399-0004.2007.00768.x
- By:
- Publication type:
- Article
16
Managing genetic discrimination: Strategies used by individuals found to have the Huntington disease mutation.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 3, p. 220, doi. 10.1111/j.1399-0004.2007.00770.x
- By:
- Publication type:
- Article