Found: 21
Select item for more details and to access through your institution.
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 505, doi. 10.1111/j.1399-0004.2011.01832.x
- By:
- Publication type:
- Article
Doubling the referral rate of monogenic diabetes through a nationwide information campaign - update on glucokinase gene mutations in a Polish cohort.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 587, doi. 10.1111/j.1399-0004.2011.01803.x
- By:
- Publication type:
- Article
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 574, doi. 10.1111/j.1399-0004.2011.01814.x
- By:
- Publication type:
- Article
Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 594, doi. 10.1111/j.1399-0004.2012.01869.x
- By:
- Publication type:
- Article
Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 521, doi. 10.1111/cge.12003
- By:
- Publication type:
- Article
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 514, doi. 10.1111/j.1399-0004.2011.01831.x
- By:
- Publication type:
- Article
Female factor IX deficiency due to maternally inherited X-inactivation.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 583, doi. 10.1111/j.1399-0004.2012.01842.x
- By:
- Publication type:
- Article
A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 534, doi. 10.1111/j.1399-0004.2011.01806.x
- By:
- Publication type:
- Article
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 579, doi. 10.1111/j.1399-0004.2011.01817.x
- By:
- Publication type:
- Article
Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 522, doi. 10.1111/cge.12002
- By:
- Publication type:
- Article
Valuing gene testing in children with possible neurofibromatosis 1.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 591, doi. 10.1111/j.1399-0004.2011.01801.x
- By:
- Publication type:
- Article
Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 564, doi. 10.1111/j.1399-0004.2012.01841.x
- By:
- Publication type:
- Article
Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 540, doi. 10.1111/j.1399-0004.2011.01812.x
- By:
- Publication type:
- Article
Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 558, doi. 10.1111/j.1399-0004.2011.01805.x
- By:
- Publication type:
- Article
Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 552, doi. 10.1111/j.1399-0004.2012.01845.x
- By:
- Publication type:
- Article
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 526, doi. 10.1111/j.1399-0004.2011.01838.x
- By:
- Publication type:
- Article
Two double heterozygotes in a South African Afrikaner family: implications for BRCA1 and BRCA2 predictive testing.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 599, doi. 10.1111/j.1399-0004.2012.01878.x
- By:
- Publication type:
- Article
PIK3CA, a hotspot for postzygotic mutations in nonhereditary overgrowth syndromes.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 523, doi. 10.1111/cge.12001
- By:
- Publication type:
- Article
An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 601, doi. 10.1111/j.1399-0004.2012.01873.x
- By:
- Publication type:
- Article
Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 546, doi. 10.1111/j.1399-0004.2011.01804.x
- By:
- Publication type:
- Article
FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 6, p. 569, doi. 10.1111/j.1399-0004.2011.01819.x
- By:
- Publication type:
- Article