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Ryuta Tanaka

Showing results (21-30 of 28) with videos related to

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American Journal of Medical Genetics. Part A|August 18, 2017
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2ATakashi Enokizono, Tatsuyuki Ohto, Ryuta Tanaka, et al.
Orphanet Journal of Rare Diseases|January 7, 2021
Acute encephalopathy in children with tuberous sclerosis complexShingo Numoto, Hirokazu Kurahashi, Atsushi Sato, et al.
Life (Basel, Switzerland)|August 28, 2025
Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration StudyYuichi Abe, Toshimitsu Hamasaki, Jun Natsume, et al.
American Journal of Medical Genetics. Part A|January 28, 2021
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3Maiko Hatano, Hiroko Fukushima, Tatsuyuki Ohto, et al.
Pediatric Neurology|June 7, 2024
Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case SeriesMichiru Sasaki, Tohru Okanishi, Tsuyoshi Matsuoka, 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.
Nature Communications|April 9, 2021
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H<sup>+</sup>-ATPases is essential for brain development in humans and miceKazushi Aoto, Mitsuhiro Kato, Tenpei Akita, et al.
Clinical Genetics|February 9, 2017
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cystsKazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, et al.
Pageof 3

Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
American Journal of Medical Genetics. Part A|August 18, 2017
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2ATakashi Enokizono, Tatsuyuki Ohto, Ryuta Tanaka, et al.
Orphanet Journal of Rare Diseases|January 7, 2021
Acute encephalopathy in children with tuberous sclerosis complexShingo Numoto, Hirokazu Kurahashi, Atsushi Sato, et al.
Life (Basel, Switzerland)|August 28, 2025
Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration StudyYuichi Abe, Toshimitsu Hamasaki, Jun Natsume, et al.
American Journal of Medical Genetics. Part A|January 28, 2021
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3Maiko Hatano, Hiroko Fukushima, Tatsuyuki Ohto, et al.
Pediatric Neurology|June 7, 2024
Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case SeriesMichiru Sasaki, Tohru Okanishi, Tsuyoshi Matsuoka, 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.
Nature Communications|April 9, 2021
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H<sup>+</sup>-ATPases is essential for brain development in humans and miceKazushi Aoto, Mitsuhiro Kato, Tenpei Akita, et al.
Clinical Genetics|February 9, 2017
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cystsKazuhiro Iwama, Takeshi Mizuguchi, Jun-Ichi Takanashi, et al.
Pageof 3