Found: 15
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Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 5, p. 445, doi. 10.1111/cge.12771
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- Article
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 5, p. 413, doi. 10.1111/cge.12729
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- Article
Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications.
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- Clinical Genetics, 2016, v. 90, n. 5, p. 451, doi. 10.1111/cge.12772
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- Article
The role of COMT and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 deletion syndrome.
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- Clinical Genetics, 2016, v. 90, n. 5, p. 420, doi. 10.1111/cge.12766
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- Article
Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.
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- Clinical Genetics, 2016, v. 90, n. 5, p. 428, doi. 10.1111/cge.12768
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- Article
Issue Information - Editorial Board.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 5, p. 391, doi. 10.1111/cge.12669
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- Article
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 5, p. 461, doi. 10.1111/cge.12756
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- Article
Down syndrome in adults: a 27-year follow-up of adaptive skills.
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- Clinical Genetics, 2016, v. 90, n. 5, p. 456, doi. 10.1111/cge.12787
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- Article
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 5, p. 472, doi. 10.1111/cge.12805
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- Article
Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families.
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- Clinical Genetics, 2016, v. 90, n. 5, p. 466, doi. 10.1111/cge.12806
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- Article
Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.
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- Clinical Genetics, 2016, v. 90, n. 5, p. 403, doi. 10.1111/cge.12807
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- Article
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
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- Clinical Genetics, 2016, v. 90, n. 5, p. 393, doi. 10.1111/cge.12812
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- Publication type:
- Article
Characterization of SPATA5-related encephalopathy in early childhood.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 5, p. 437, doi. 10.1111/cge.12813
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- Article
Mutation in JPH2 cause dilated cardiomyopathy.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 5, p. 468, doi. 10.1111/cge.12825
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- Article
Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.
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- Clinical Genetics, 2016, v. 90, n. 5, p. 470, doi. 10.1111/cge.12830
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- Article