CLINICAL GENETICS,volume 87,issue 5  (05-2015)

Period of time： 2015年5期

Publisher： John Wiley & Sons Inc

Founded in： 1970

Total resources： 41

E-ISSN： 1399-0004|87|5

ISSN： 0009-9163

Subject： Q Biological Sciences

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CLINICAL GENETICS,volume 87,issue 5

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Spinal neurofibromatosis and phenotypic heterogeneity in NF1

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 399-400

John Wiley & Sons Inc

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The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 401-410

John Wiley & Sons Inc

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BRCA1 and BRCA2 mutations and the risk for colorectal cancer

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 411-418

John Wiley & Sons Inc

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Routine assessment of psychosocial problems after cancer genetic counseling: results from a randomized controlled trial

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 419-427

John Wiley & Sons Inc

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The implications of de novo coding mutations in simplex autism families

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 428-429

John Wiley & Sons Inc

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Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1‐related disorders

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 430-439

John Wiley & Sons Inc

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Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK‐MODY phenotype

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 440-447

John Wiley & Sons Inc

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Monoallelic ABCC8 mutations are a common cause of diazoxide‐unresponsive diffuse form of congenital hyperinsulinism

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 448-454

John Wiley & Sons Inc

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Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 455-460

John Wiley & Sons Inc

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Alpha‐thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation – c.109C>T (p.R37X)

CLINICAL GENETICS,volume 87,issue 5 , Vol. 87, Iss. 5, 2015-05 , pp. 461-466

John Wiley & Sons Inc

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