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List of works by Yu Abe

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

scientific article

A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy ⬇️

scientific article published on January 20, 2013

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos.

scientific article published on 16 April 2018

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling

scientific article published on 26 July 2018

Epilepsy in RAS/MAPK syndrome: Two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review ⬇️

scientific article published on August 25, 2011

Human germline hedgehog pathway mutations predispose to fatty liver.

scientific article published on 20 June 2017

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey

scientific article published on 11 April 2012

The usefulness of subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with West syndrome

scientific article

Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.

scientific article published on 23 July 2014

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