CLINICAL GENETICS,volume 87,issue 4  (04-2015)

Period of time： 2015年4期

Publisher： John Wiley & Sons Inc

Founded in： 1970

Total resources： 41

ISSN： 0009-9163

Subject： Q Biological Sciences

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CLINICAL GENETICS,volume 87,issue 4

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Predictive genetic testing for adult‐onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 301-310

John Wiley & Sons Inc

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Living laboratory: whole‐genome sequencing as a learning healthcare enterprise

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 311-318

John Wiley & Sons Inc

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Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 319-326

John Wiley & Sons Inc

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MICU1 mutation: a genetic cause for a type of neuromuscular disease in children

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 327-328

John Wiley & Sons Inc

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Mutations in C2CD3 cause oral‐facial‐digital syndrome through deregulation of centriole length

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 328-329

John Wiley & Sons Inc

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Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 330-337

John Wiley & Sons Inc

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Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X‐linked ectodermal dysplasia

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 338-342

John Wiley & Sons Inc

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Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 343-349

John Wiley & Sons Inc

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The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 350-355

John Wiley & Sons Inc

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De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

CLINICAL GENETICS,volume 87,issue 4 , Vol. 87, Iss. 4, 2015-04 , pp. 356-361

John Wiley & Sons Inc

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