Works matching IS 00099163 AND DT 2007 AND VI 71 AND IP 5
Results: 15
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 427, doi. 10.1111/j.1399-0004.2007.00766.x
- By:
- Publication type:
- Article
RMRP mutations in hematological disorders.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Genetic counselling and consent for tumour testing in HNPCC.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 400, doi. 10.1111/j.1399-0004.2007.00779.x
- By:
- Publication type:
- Article
The Ala53Thr mutation in the α-synuclein gene in a Korean family with Parkinson disease.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Newborn screening for mucopolysaccharidoses: opinions of patients and their families.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 446, doi. 10.1111/j.1399-0004.2007.00783.x
- By:
- Publication type:
- Article
The Huntington’s Disease quality of life battery for carers: reliability and validity.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 434, doi. 10.1111/j.1399-0004.2007.00784.x
- By:
- Publication type:
- Article
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene ( SPINK1) and the cationic trypsinogen gene ( PRSS1) to the etiology of recurrent pancreatitis.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 451, doi. 10.1111/j.1399-0004.2007.00788.x
- By:
- Publication type:
- Article
MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 458, doi. 10.1111/j.1399-0004.2007.00789.x
- By:
- Publication type:
- Article
Current status of thalassemia in minority populations in Guangxi, China.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 419, doi. 10.1111/j.1399-0004.2007.00791.x
- By:
- Publication type:
- Article
Clinical findings and molecular characterization of six subtelomeric imbalances.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 406, doi. 10.1111/j.1399-0004.2007.00794.x
- By:
- Publication type:
- Article
The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 415, doi. 10.1111/j.1399-0004.2007.00795.x
- By:
- Publication type:
- Article
A new familial mutation (R133G) in the SRY gene.
- Published in:
- 2007
- By:
- Publication type:
- Letter
An overview of isolated and syndromic oesophageal atresia.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 392, doi. 10.1111/j.1399-0004.2007.00798.x
- By:
- Publication type:
- Article
Mitochondrial deafness.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 379, doi. 10.1111/j.1399-0004.2007.00800.x
- By:
- Publication type:
- Article