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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 1, 2020
Transient cortical diffusion restriction in children immediately after prolonged febrile seizuresTakeshi Suzuki, Hiroyuki Kidokoro, Tetsuo Kubota, et al.Journal of Autism and Developmental Disorders|February 16, 2021
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical SettingsKei Ohashi, Satomi Fukuhara, Taishi Miyachi, et al.American Journal of Medical Genetics. Part A|April 15, 2016
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndromeIkumi Hori, Fuyuki Miya, Kei Ohashi, et al.Brain & Development|September 13, 2017
Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosumYuji Nakamura, Yasuko Togawa, Yusuke Okuno, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|July 12, 2019
Delayed recognition of childhood arterial ischemic strokeIkumi Hori, Takeshi Tsuji, Misa Miyake, et al.Human Genome Variation|October 25, 2019
A novel CUL4B splice site variant in a young male exhibiting less pronounced featuresYuji Nakamura, Yusuke Okuno, Hideki Muramatsu, et al.Human Genome Variation|May 28, 2025
De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complicationsYuri Moriura, Yosuke Nishio, Shintaro Ichimura, et al.American Journal of Medical Genetics. Part A|June 20, 2012
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndromeKana Hosoki, Tohru Ohta, Jun Natsume, et al.Scientific Reports|March 20, 2015
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutationsFuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, et al.Journal of Human Genetics|June 17, 2018
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndromeIkumi Hori, Fuyuki Miya, Yutaka Negishi, et al.Pageof 27