Research keywords (5):
Neuroscience
, Genomic analysis
, Intellectual disability
, Genetic disorders
, Human Genetics
Papers (9):
Daisuke Fukushi, Mie Inaba, Kimiko Katoh, Yasuyo Suzuki, Yasushi Enokido, Noriko Nomura, Yoshihito Tokita, Shin Hayashi, Seiji Mizuno, Kenichiro Yamada, et al. R3HDM1 haploinsufficiency is associated with mild intellectual disability. American Journal of Medical Genetics Part A. 2021. 185. 6. 1776-1786
Takashi Matsukawa, Tomotaka Yamamoto, Akira Honda, Takashi Toya, Hiroyuki Ishiura, Jun Mitsui, Masaki Tanaka, Akihito Hao, Akihito Shinohara, Mizuki Ogura, et al. Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy. Brain communications. 2020. 2. 1. fcz048