Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Works matching IS 00099163 AND DT 2006 AND VI 69 AND IP 5
Results: 18
1
2
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.
- Published in:
- 2006
- By:
- Publication type:
- Letter
3
High prevalence of the IVS 1 + 1 G to A/ GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 5, p. 410, doi. 10.1111/j.1399-0004.2006.00602.x
- By:
- Publication type:
- Article
4
Loss of function mutations in SIL1 cause Marinesco–Sjögren syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Other
5
Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.
- Published in:
- 2006
- By:
- Publication type:
- Letter
6
Screening of the CAPN3 gene in patients with possible LGMD2A.
- Published in:
- 2006
- By:
- Publication type:
- Letter
7
The beat goes on: ciliary proteins are defective in Meckel syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Other
8
Gene discovery in methylmalonic aciduria and homocystinuria.
- Published in:
- 2006
- By:
- Publication type:
- Other
9
The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 5, p. 429, doi. 10.1111/j.1399-0004.2006.00611.x
- By:
- Publication type:
- Article
10
Genetic architecture of the F7 gene in a Spanish population: implication for mapping complex diseases and for functional assays.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 5, p. 420, doi. 10.1111/j.1399-0004.2006.00608.x
- By:
- Publication type:
- Article
11
Letter to the Editor in response to Duncan RE and Delatycki MB. Predictive genetic testing in young people for adult-onset conditions: Where is the empirical evidence?′.
- Published in:
- 2006
- By:
- Publication type:
- Letter
12
Response to Fiona Richards' ‘Letter to the Editor’.
- Published in:
- 2006
- By:
- Publication type:
- Letter
13
Response to Semaka.
- Published in:
- 2006
- By:
- Publication type:
- Letter
14
Expanding the phenotypic spectrum of L1CAM-associated disease.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 5, p. 414, doi. 10.1111/j.1399-0004.2006.00607.x
- By:
- Publication type:
- Article
15
Cholesteryl ester transfer protein gene mutations in Brazilian hyperalphalipoproteinemia.
- Published in:
- 2006
- By:
- Publication type:
- Letter
16
Views of female breast cancer patients who donated biologic samples regarding storage and use of samples for genetic research.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 5, p. 393, doi. 10.1111/j.1399-0004.2006.00614.x
- By:
- Publication type:
- Article
17
Novel germline mutations in the APC gene of Cypriot patients with familial and sporadic adenomatous polyposis.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 5, p. 404, doi. 10.1111/j.1399-0004.2006.00617.x
- By:
- Publication type:
- Article
18
Non-syndromic, autosomal-recessive deafness.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 5, p. 371, doi. 10.1111/j.1399-0004.2006.00613.x
- By:
- Publication type:
- Article