CLINICAL GENETICS,volume 87,issue 2  (02-2015)

Period of time： 2015年2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 2

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Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. e1-e3

John Wiley & Sons Inc

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Clinical Exome/Genome Reports‐Announcement

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. 99-99

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A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. 100-108

John Wiley & Sons Inc

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Systematic review of the psychosocial aspects of living with Marfan syndrome

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. 109-116

John Wiley & Sons Inc

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The impact of multiplex genetic testing on disease risk perceptions

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. 117-123

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Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10‐year experience

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. 124-132

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A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. 133-140

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Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. 141-147

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Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. 148-154

John Wiley & Sons Inc

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Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early‐onset breast/ovarian cancer from Tunisia

CLINICAL GENETICS,volume 87,issue 2 , Vol. 87, Iss. 2, 2015-02 , pp. 155-160

John Wiley & Sons Inc

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