A novel mutation in PRDM5 in brittle cornea syndrome.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 198, doi. 10.1111/j.1399-0004.2011.01808.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2012 AND VI 81 AND IP 2
Results: 16
1
2
When 'UPS' fails to deliver: a novel gene associated with the ubiquitin-proteasome system causes familial ALS.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 125, doi. 10.1111/j.1399-0004.2011.01815.x
- By:
- Publication type:
- Article
3
Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 110, doi. 10.1111/j.1399-0004.2011.01763.x
- By:
- Publication type:
- Article
4
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 ( Cx32) mutations in Koreans.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 142, doi. 10.1111/j.1399-0004.2011.01642.x
- By:
- Publication type:
- Article
5
A nasty hex on chromosome 9 causes FTD/ALS.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 126, doi. 10.1111/j.1399-0004.2011.01820.x
- By:
- Publication type:
- Article
6
CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 191, doi. 10.1111/j.1399-0004.2011.01731.x
- By:
- Publication type:
- Article
7
Origins of the elephant man: mosaic somatic mutations cause Proteus syndrome.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 123, doi. 10.1111/j.1399-0004.2011.01807.x
- By:
- Publication type:
- Article
8
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 150, doi. 10.1111/j.1399-0004.2011.01624.x
- By:
- Publication type:
- Article
9
A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 179, doi. 10.1111/j.1399-0004.2010.01617.x
- By:
- Publication type:
- Article
10
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 172, doi. 10.1111/j.1399-0004.2011.01668.x
- By:
- Publication type:
- Article
11
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 158, doi. 10.1111/j.1399-0004.2010.01580.x
- By:
- Publication type:
- Article
12
Recent genomic advances in schizophrenia.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 103, doi. 10.1111/j.1399-0004.2011.01773.x
- By:
- Publication type:
- Article
13
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 185, doi. 10.1111/j.1399-0004.2011.01641.x
- By:
- Publication type:
- Article
14
Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 165, doi. 10.1111/j.1399-0004.2011.01627.x
- By:
- Publication type:
- Article
15
Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 128, doi. 10.1111/j.1399-0004.2011.01687.x
- By:
- Publication type:
- Article
16
The Huntington's Disease health-related Quality of Life questionnaire (HDQoL): a disease-specific measure of health-related quality of life.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 2, p. 117, doi. 10.1111/j.1399-0004.2011.01823.x
- By:
- Publication type:
- Article