CLINICAL GENETICS,volume 93,issue 2  (02-2018)

Period of time： 2018年2期

Publisher： John Wiley & Sons Inc

Founded in： 1970

Total resources： 41

E-ISSN： 1399-0004|93|2

ISSN： 0009-9163

Subject： Q Biological Sciences

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CLINICAL GENETICS,volume 93,issue 2

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CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 195-195

John Wiley & Sons Inc

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Fragile X syndrome: An overview and update of the FMR1 gene

CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 197-205

John Wiley & Sons Inc

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Galactose‐1‐phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long‐term complications and allelic variants

CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 206-215

John Wiley & Sons Inc

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Metformin as targeted treatment in fragile X syndrome

CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 216-222

John Wiley & Sons Inc

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A genetic epidemiology study of congenital adrenal hyperplasia in Italy

CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 223-227

John Wiley & Sons Inc

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Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria

CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 228-234

John Wiley & Sons Inc

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Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy

CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 235-241

John Wiley & Sons Inc

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Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination

CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 242-247

John Wiley & Sons Inc

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Large‐scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease

CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 248-254

John Wiley & Sons Inc

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Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

CLINICAL GENETICS,volume 93,issue 2 , Vol. 93, Iss. 2, 2018-02 , pp. 255-265

John Wiley & Sons Inc

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