Results: 22
Absence of PMS2 mutations in colon- CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 591, doi. 10.1111/cge.12011
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- Publication type:
- Article
Clinical and genetic analysis of patients with X-linked hyper- IgM syndrome.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 585, doi. 10.1111/j.1399-0004.2012.01953.x
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- Article
Novel SLC9A6 mutations in two families with Christianson syndrome.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 596, doi. 10.1111/j.1399-0004.2012.01948.x
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- Article
Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome
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- Clinical Genetics, 2013, v. 83, n. 6, p. 553, doi. 10.1111/cge.12022
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- Publication type:
- Article
Opsismodysplasia: implications of mutations in the developmental gene INPPL1.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 527, doi. 10.1111/cge.12136
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- Publication type:
- Article
Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 545, doi. 10.1111/cge.12008
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- Publication type:
- Article
The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 518, doi. 10.1111/cge.12142
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- Article
Reduced cancer incidence in Huntington's disease: record linkage study clue to an evolutionary trade-off?
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- Clinical Genetics, 2013, v. 83, n. 6, p. 588, doi. 10.1111/cge.12010
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- Publication type:
- Article
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 565, doi. 10.1111/cge.12015
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- Article
Response to Zizzo et al. Response to Zizzo et al.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 582, doi. 10.1111/cge.12135
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- Publication type:
- Article
Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 560, doi. 10.1111/cge.12014
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- Publication type:
- Article
Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 594, doi. 10.1111/cge.12007
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- Publication type:
- Article
Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 576, doi. 10.1111/j.1399-0004.2012.01940.x
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- Publication type:
- Article
Human facial dysostoses.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 499, doi. 10.1111/cge.12123
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- Publication type:
- Article
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 571, doi. 10.1111/cge.12020
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- Publication type:
- Article
Response to Simsek et al.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 584, doi. 10.1111/cge.12134
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- Publication type:
- Article
Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 526, doi. 10.1111/cge.12127
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- Publication type:
- Article
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 530, doi. 10.1111/cge.12017
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- Publication type:
- Article
An emerging role for Wnt and GSK3 signaling pathways in schizophrenia.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 511, doi. 10.1111/cge.12111
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- Publication type:
- Article
Identification of the CFTR p. Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient.
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- Clinical Genetics, 2013, v. 83, n. 6, p. 598, doi. 10.1111/cge.12012
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- Publication type:
- Article
TREM2: a new risk factor for Alzheimer's disease.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 525, doi. 10.1111/cge.12108
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- Publication type:
- Article
Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 539, doi. 10.1111/cge.12005
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- Publication type:
- Article