CLINICAL GENETICS

Publisher： John Wiley & Sons Inc

Founded in： 1970

Total resources： 41

E-ISSN： 1399-0004

ISSN： 0009-9163

Subject： R3 Basic Medical

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CLINICAL GENETICS

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Whole‐exome sequencing identifies a homozygous donor splice‐site mutation in STAG3 that causes primary ovarian insufficiency

CLINICAL GENETICS , Vol. 93, Iss. 2, 2018-02 , pp. 340-344

John Wiley & Sons Inc

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Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency

CLINICAL GENETICS , Vol. 93, Iss. 2, 2018-02 , pp. 401-407

John Wiley & Sons Inc

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Homozygous nonsense mutation in SCHIP1/IQCJ‐SCHIP1 causes a neurodevelopmental brain malformation syndrome

CLINICAL GENETICS , Vol. 93, Iss. 2, 2018-02 , pp. 387-391

John Wiley & Sons Inc

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Novel non‐neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia

CLINICAL GENETICS , Vol. 93, Iss. 2, 2018-02 , pp. 275-285

John Wiley & Sons Inc

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Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities

CLINICAL GENETICS , Vol. 93, Iss. 2, 2018-02 , pp. 365-367

John Wiley & Sons Inc

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A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole‐exome sequencing

CLINICAL GENETICS , Vol. 93, Iss. 2, 2018-02 , pp. 345-349

John Wiley & Sons Inc

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Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants

CLINICAL GENETICS , Vol. 93, Iss. 2, 2018-02 , pp. 350-355

John Wiley & Sons Inc

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Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing

CLINICAL GENETICS , Vol. 93, Iss. 2, 2018-02 , pp. 329-339

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 , Vol. 93, Iss. 2, 2018-02 , pp. 206-215

John Wiley & Sons Inc

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WDR45B‐related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome

CLINICAL GENETICS , Vol. 93, Iss. 2, 2018-02 , pp. 360-364

John Wiley & Sons Inc

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