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Shino Shimada

Showing results (31-40 of 45) with videos related to

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Frontiers in Pediatrics|February 23, 2026
Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndromeTakato Akiba, Shino Shimada, Michiaki Ikegami, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvementKaoru Eto, Norio Sakai, Shino Shimada, et al.
Journal of Human Genetics|June 3, 2016
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutationsMio Hamatani, Naoto Jingami, Yoshinori Tsurusaki, et al.
Brain & Development|April 7, 2015
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter diseaseShino Shimada, Keiko Shimojima, Noriko Sangu, et al.
Seizure|August 13, 2025
Neurodevelopmental milestone acquisition following early hemispherotomy in Sturge-Weber syndromeYasushi Iimura, Hiroharu Suzuki, Takumi Mitsuhashi, et al.
Epilepsia|November 21, 2025
Cortical hypertrophy of the contralateral hemisphere after hemispherotomy in children with Sturge-Weber syndrome: A longitudinal volumetric studyYasushi Iimura, Takumi Mitsuhashi, Hiroharu Suzuki, et al.
Journal of Inherited Metabolic Disease|May 13, 2020
Mutations in GET4 disrupt the transmembrane domain recognition complex pathwayMitali A Tambe, Bobby G Ng, Shino Shimada, et al.
Brain & Development|April 7, 2015
Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplicationsShinsaku Yoshitomi, Yukitoshi Takahashi, Mamiko Ishizuka, et al.
Molecular Genetics and Metabolism|August 20, 2021
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEAThomas Boulin, Omar Itani, Sonia El Mouridi, et al.
Seizure|June 3, 2019
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesiaAkihisa Okumura, Keiko Shimojima, Hirokazu Kurahashi, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Frontiers in Pediatrics|February 23, 2026
Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndromeTakato Akiba, Shino Shimada, Michiaki Ikegami, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvementKaoru Eto, Norio Sakai, Shino Shimada, et al.
Journal of Human Genetics|June 3, 2016
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutationsMio Hamatani, Naoto Jingami, Yoshinori Tsurusaki, et al.
Brain & Development|April 7, 2015
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter diseaseShino Shimada, Keiko Shimojima, Noriko Sangu, et al.
Seizure|August 13, 2025
Neurodevelopmental milestone acquisition following early hemispherotomy in Sturge-Weber syndromeYasushi Iimura, Hiroharu Suzuki, Takumi Mitsuhashi, et al.
Epilepsia|November 21, 2025
Cortical hypertrophy of the contralateral hemisphere after hemispherotomy in children with Sturge-Weber syndrome: A longitudinal volumetric studyYasushi Iimura, Takumi Mitsuhashi, Hiroharu Suzuki, et al.
Journal of Inherited Metabolic Disease|May 13, 2020
Mutations in GET4 disrupt the transmembrane domain recognition complex pathwayMitali A Tambe, Bobby G Ng, Shino Shimada, et al.
Brain & Development|April 7, 2015
Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplicationsShinsaku Yoshitomi, Yukitoshi Takahashi, Mamiko Ishizuka, et al.
Molecular Genetics and Metabolism|August 20, 2021
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEAThomas Boulin, Omar Itani, Sonia El Mouridi, et al.
Seizure|June 3, 2019
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesiaAkihisa Okumura, Keiko Shimojima, Hirokazu Kurahashi, et al.
Pageof 5