CLINICAL GENETICS,volume 88,issue 5  (11-2015)

Period of time： 2015年5期

Publisher： John Wiley & Sons Inc

Founded in： 1970

Total resources： 41

E-ISSN： 1399-0004|88|5

ISSN： 0009-9163

Subject： Q Biological Sciences

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CLINICAL GENETICS,volume 88,issue 5

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A review of craniofacial disorders caused by spliceosomal defects

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 405-415

John Wiley & Sons Inc

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mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 416-424

John Wiley & Sons Inc

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Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 425-430

John Wiley & Sons Inc

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Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 431-440

John Wiley & Sons Inc

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Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole‐exome sequencing

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 441-449

John Wiley & Sons Inc

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Frequent occurrence of gastric cancer in Asian kindreds with Li–Fraumeni syndrome

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 450-455

John Wiley & Sons Inc

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Collagen type IV‐related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 456-461

John Wiley & Sons Inc

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Collagen type IV‐related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 462-467

John Wiley & Sons Inc

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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 468-473

John Wiley & Sons Inc

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The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis‐like phenotype and early onset cancer

CLINICAL GENETICS,volume 88,issue 5 , Vol. 88, Iss. 5, 2015-11 , pp. 474-478

John Wiley & Sons Inc

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