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Jun Tohyama

Showing results (51-60 of 102) with videos related to

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Journal of Human Genetics|January 30, 2015
SPTAN1 encephalopathy: distinct phenotypes and genotypesJun Tohyama, Mitsuko Nakashima, Shin Nabatame, et al.
The Journal of Pediatrics|October 6, 2009
Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotypeKana Hosoki, Masayo Kagami, Touju Tanaka, et al.
Brain & Development|November 24, 2020
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysisAkiko Hiraiwa, Kou Matsui, Yumi Nakayama, et al.
Orphanet Journal of Rare Diseases|December 4, 2019
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancyYutaka Negishi, Daisuke Ieda, Ikumi Hori, et al.
Epilepsia|July 11, 2006
Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsyTakanori Kamimura, Jun Tohyama, Makoto Oishi, et al.
Brain & Development|October 21, 2015
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disordersYu Kobayashi, Jun Tohyama, Mitsuhiro Kato, et al.
Human Genome Variation|December 3, 2024
Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variantMoemi Hojo, Noriko Soma, Kei Yamada, et al.
Congenital Anomalies|July 22, 2014
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM geneTakehiro Serikawa, Kenichi Nishiyama, Jun Tohyama, et al.
Journal of Infection and Chemotherapy : Official Journal of the Japan Society of Chemotherapy|August 3, 2025
A retrospective observational study of the nosocomial outbreak caused by human rhinovirus A34Miyako Fujita, Takeshi Kinjo, Wakaki Kami, et al.
Brain & Development|October 19, 2025
Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case seriesYu Kobayashi, Satoru Sakuma, Emiko Morimoto, et al.
Pageof 11

Showing results (51-60 of 102) with videos related to

Sort By:
Pageof 11
Journal of Human Genetics|January 30, 2015
SPTAN1 encephalopathy: distinct phenotypes and genotypesJun Tohyama, Mitsuko Nakashima, Shin Nabatame, et al.
The Journal of Pediatrics|October 6, 2009
Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotypeKana Hosoki, Masayo Kagami, Touju Tanaka, et al.
Brain & Development|November 24, 2020
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysisAkiko Hiraiwa, Kou Matsui, Yumi Nakayama, et al.
Orphanet Journal of Rare Diseases|December 4, 2019
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancyYutaka Negishi, Daisuke Ieda, Ikumi Hori, et al.
Epilepsia|July 11, 2006
Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsyTakanori Kamimura, Jun Tohyama, Makoto Oishi, et al.
Brain & Development|October 21, 2015
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disordersYu Kobayashi, Jun Tohyama, Mitsuhiro Kato, et al.
Human Genome Variation|December 3, 2024
Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variantMoemi Hojo, Noriko Soma, Kei Yamada, et al.
Congenital Anomalies|July 22, 2014
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM geneTakehiro Serikawa, Kenichi Nishiyama, Jun Tohyama, et al.
Journal of Infection and Chemotherapy : Official Journal of the Japan Society of Chemotherapy|August 3, 2025
A retrospective observational study of the nosocomial outbreak caused by human rhinovirus A34Miyako Fujita, Takeshi Kinjo, Wakaki Kami, et al.
Brain & Development|October 19, 2025
Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case seriesYu Kobayashi, Satoru Sakuma, Emiko Morimoto, et al.
Pageof 11