CLINICAL GENETICS,volume 88,issue 3  (09-2015)

Period of time： 2015年3期

Publisher： John Wiley & Sons Inc

Founded in： 1970

Total resources： 41

E-ISSN： 1399-0004|88|3

ISSN： 0009-9163

Subject： Q Biological Sciences

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CLINICAL GENETICS,volume 88,issue 3

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Genetics of human isolated hereditary hair loss disorders

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 203-212

John Wiley & Sons Inc

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Pancreatic cancer genomics: where can the science take us?

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 213-219

John Wiley & Sons Inc

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Low utilization of prenatal and pre‐implantation genetic diagnosis in Huntington disease – risk discounting in preventive genetics

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 220-223

John Wiley & Sons Inc

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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 224-233

John Wiley & Sons Inc

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Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 234-240

John Wiley & Sons Inc

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Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1‐q44 duplication including the AKT3 gene

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 241-247

John Wiley & Sons Inc

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FERMT1 promoter mutations in patients with Kindler syndrome

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 248-254

John Wiley & Sons Inc

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Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 255-260

John Wiley & Sons Inc

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Autosomal recessive cystinuria caused by genome‐wide paternal uniparental isodisomy in a patient with Beckwith–Wiedemann syndrome

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 261-266

John Wiley & Sons Inc

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A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

CLINICAL GENETICS,volume 88,issue 3 , Vol. 88, Iss. 3, 2015-09 , pp. 267-272

John Wiley & Sons Inc

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