Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 4, p. 392, doi. 10.1111/j.1399-0004.2012.01915.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 2013 AND VI 83 AND IP 4
Results: 20
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Monozygotic twins discordant for port wine stains support the post-zygotic mutation hypothesis.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 397, doi. 10.1111/j.1399-0004.2012.01926.x
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- Article
3
Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 380, doi. 10.1111/j.1399-0004.2012.01927.x
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- Article
4
Building a brain in the gut: development of the enteric nervous system Building a brain in the gut: development of the enteric nervous system.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 307, doi. 10.1111/cge.12054
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- Article
5
The genetics of type 2 diabetes and its clinical relevance The genetics of type 2 diabetes and its clinical relevance.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 297, doi. 10.1111/cge.12055
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- Article
6
X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 352, doi. 10.1111/j.1399-0004.2012.01930.x
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- Article
7
Successful long-term enzyme replacement therapy in a young adult with Fabry disease.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 395, doi. 10.1111/j.1399-0004.2012.01916.x
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- Publication type:
- Article
8
The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 321, doi. 10.1111/j.1399-0004.2012.01919.x
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- Article
9
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 319, doi. 10.1111/cge.12082
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- Article
10
Aberrant TGF-β signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 318, doi. 10.1111/cge.12102
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- Article
11
Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 388, doi. 10.1111/j.1399-0004.2012.01910.x
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- Article
12
Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 384, doi. 10.1111/j.1399-0004.2012.01921.x
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- Article
13
Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 370, doi. 10.1111/j.1399-0004.2012.01914.x
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- Article
14
Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 345, doi. 10.1111/j.1399-0004.2012.01925.x
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- Article
15
Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 359, doi. 10.1111/j.1399-0004.2012.01929.x
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- Article
16
Craniofacial variations in the tricho-dento-osseous syndrome.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 375, doi. 10.1111/j.1399-0004.2012.01907.x
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- Article
17
Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 317, doi. 10.1111/cge.12100
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- Article
18
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 337, doi. 10.1111/j.1399-0004.2012.01931.x
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- Article
19
Germline RAD51C mutations in ovarian cancer susceptibility.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 332, doi. 10.1111/j.1399-0004.2012.01917.x
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- Article
20
Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families.
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- Clinical Genetics, 2013, v. 83, n. 4, p. 365, doi. 10.1111/j.1399-0004.2012.01928.x
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- Article