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Clinical Genetics|December 28, 2022
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variantsYuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, et al.
Scientific Reports|July 21, 2016
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delayHirotomo Saitsu, Miho Watanabe, Tenpei Akita, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 2, 2015
Clinical and neuroimaging findings in children with posterior reversible encephalopathy syndromeHiroyuki Yamamoto, Jun Natsume, Hiroyuki Kidokoro, et al.
Clinical Epigenetics|October 5, 2024
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbanceTatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, et al.
Scientific Reports|April 6, 2018
IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysisDaichi Shigemizu, Fuyuki Miya, Shintaro Akiyama, et al.
Scientific Reports|July 5, 2018
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysisDaichi Shigemizu, Fuyuki Miya, Shintaro Akiyama, et al.
Brain & Development|February 16, 2026
Clinical profiles of tuberous sclerosis complex: A regionally based surveyMisae Yamada, Jun Natsume, Yuki Maki, et al.
Neuromuscular Disorders : NMD|June 3, 2011
Inflammatory changes in infantile-onset LMNA-associated myopathyHirofumi Komaki, Yukiko K Hayashi, Rie Tsuburaya, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|June 28, 2022
Perinatal hypoxia aggravates occlusive pulmonary vasculopathy in SU5416/hypoxia-treated rats later in lifeHironori Oshita, Hirofumi Sawada, Yoshihide Mitani, et al.
BMJ Open|November 15, 2019
Cohort profile: Aichi regional sub-cohort of the Japan Environment and Children's Study (JECS-A)Takeshi Ebara, Yasuyuki Yamada, Naoto Shoji, et al.
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