Celiac disease: moving from genetic associations to causal variants.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 203, doi. 10.1111/j.1399-0004.2011.01707.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2011 AND VI 80 AND IP 3
Results: 15
1
2
The essential role of NDE1 in extreme microcephaly.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 241, doi. 10.1111/j.1399-0004.2011.01753.x
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- Publication type:
- Article
3
DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy.
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- Clinical Genetics, 2011, v. 80, n. 3, p. 240, doi. 10.1111/j.1399-0004.2011.01752.x
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- Publication type:
- Article
4
CGG repeat in the FMR1 gene: size matters.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 214, doi. 10.1111/j.1399-0004.2011.01723.x
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- Publication type:
- Article
5
A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.
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- Clinical Genetics, 2011, v. 80, n. 3, p. 265, doi. 10.1111/j.1399-0004.2010.01529.x
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- Publication type:
- Article
6
A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 293, doi. 10.1111/j.1399-0004.2011.01644.x
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- Publication type:
- Article
7
Midline axon guidance and human genetic disorders.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 226, doi. 10.1111/j.1399-0004.2011.01735.x
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- Publication type:
- Article
8
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 301, doi. 10.1111/j.1399-0004.2011.01699.x
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- Publication type:
- Article
9
Uptake of Huntington disease predictive testing in a complete population.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 281, doi. 10.1111/j.1399-0004.2010.01538.x
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- Publication type:
- Article
10
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
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- Clinical Genetics, 2011, v. 80, n. 3, p. 243, doi. 10.1111/j.1399-0004.2011.01635.x
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- Publication type:
- Article
11
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
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- Clinical Genetics, 2011, v. 80, n. 3, p. 297, doi. 10.1111/j.1399-0004.2011.01650.x
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- Publication type:
- Article
12
Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 287, doi. 10.1111/j.1399-0004.2010.01555.x
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- Publication type:
- Article
13
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 256, doi. 10.1111/j.1399-0004.2011.01623.x
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- Publication type:
- Article
14
Impact of Huntington's across the entire disease spectrum: the phases and stages of disease from the patient perspective.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 235, doi. 10.1111/j.1399-0004.2011.01748.x
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- Publication type:
- Article
15
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 273, doi. 10.1111/j.1399-0004.2010.01539.x
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- Publication type:
- Article