Works matching IS 00099163 AND DT 2011 AND VI 80 AND IP 6
Results: 17
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 6, p. 558, doi. 10.1111/j.1399-0004.2010.01608.x
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- Article
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 523, doi. 10.1111/j.1399-0004.2011.01688.x
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- Article
Bone resorption in syndromes of the Ras/MAPK pathway.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 566, doi. 10.1111/j.1399-0004.2010.01619.x
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- Article
Huntington's disease in Greece: the experience of 14 years.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 586, doi. 10.1111/j.1399-0004.2010.01603.x
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- Article
Of ORC and forks: the identification of mutations implicated in Meier-Gorlin syndrome.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 506, doi. 10.1111/j.1399-0004.2011.01779.x
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- Article
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 550, doi. 10.1111/j.1399-0004.2010.01595.x
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- Article
Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 541, doi. 10.1111/j.1399-0004.2010.01577.x
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- Article
PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 581, doi. 10.1111/j.1399-0004.2010.01588.x
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- Publication type:
- Article
A GPHN point mutation leading to molybdenum cofactor deficiency.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 598, doi. 10.1111/j.1399-0004.2011.01709.x
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- Article
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 532, doi. 10.1111/j.1399-0004.2011.01686.x
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- Article
Polycystin-1: a key player in hereditary cystic kidney and liver disorders.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 507, doi. 10.1111/j.1399-0004.2011.01780.x
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- Publication type:
- Article
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 600, doi. 10.1111/j.1399-0004.2011.01711.x
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- Publication type:
- Article
Screening and cell-based assessment of mutations in the Aristaless-related homeobox ( ARX) gene.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 510, doi. 10.1111/j.1399-0004.2011.01685.x
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- Publication type:
- Article
Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP ( ZNF9) gene.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 574, doi. 10.1111/j.1399-0004.2010.01616.x
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- Publication type:
- Article
Diagnostic accuracy of non-invasive prenatal sex determination: a large-scale study.
- Published in:
- 2011
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- Publication type:
- Letter
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 6, p. 591, doi. 10.1111/j.1399-0004.2011.01710.x
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- Publication type:
- Article
Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 6, p. 505, doi. 10.1111/j.1399-0004.2011.01761.x
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- Publication type:
- Article