List of works - Hiroaki Murakami

A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12

scientific article published on 19 July 2019

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia

scientific article published on 11 April 2019

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

scientific article published on 25 September 2020

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

scientific article published on 16 January 2020

Development and verification of signal processing system of BGO active shield onboard Astro-H

scholarly article published 25 July 2014

Discordant phenotype caused by mutation in siblings with

scientific article published on 26 April 2019

Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature

scientific article published on 05 December 2019

Hitomi X-ray observation of the pulsar wind nebula G21.5−0.9

scientific article published in January 2018

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT

scientific article published on 21 December 2020

Modeling of proton-induced radioactivation background in hard X-ray telescopes: Geant4-based simulation and its demonstration by Hitomi ’s measurement in a low Earth orbit

Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9

scientific article published on 10 April 2020

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

scientific article published on 04 February 2020

Ribonuclease activity of Dis3 is required for mitotic progression and provides a possible link between heterochromatin and kinetochore function

scientific article (publication date: 2007)

The Si/CdTe semiconductor camera of the ASTRO-H Hard X-ray Imager (HXI)

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73

scientific article published on 09 October 2019

Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon

scientific article published on 20 February 2019

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

scientific article published on 17 August 2020

List of works by Hiroaki Murakami