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Mitsuko Nakashima

Showing results (81-90 of 208) with videos related to

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Brain & Development|April 8, 2021
SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantationYutaka Negishi, Yusuke Aoki, Kazuya Itomi, et al.
Brain & Development|September 26, 2025
Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variantsRyo Sugiyama, Yuko Shimizu-Motohashi, Yuka Sakata, et al.
Journal of Human Genetics|March 3, 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeSatoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, et al.
Human Mutation|October 19, 2012
KDM6A point mutations cause Kabuki syndromeNoriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, et al.
Journal of Human Genetics|February 19, 2016
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutationsKazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi, et al.
Brain & Development|January 15, 2020
POLR3A variants in striatal involvement without diffuse hypomyelinationTakuya Hiraide, Kazuo Kubota, Yu Kono, et al.
Neurogenetics|November 21, 2013
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophyChihiro Ohba, Nobuhiko Okamoto, Yoshiko Murakami, et al.
Journal of Human Genetics|March 14, 2014
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brainChihiro Ohba, Shin Nabatame, Yoshitaka Iijima, et al.
Frontiers in Genetics|August 24, 2023
Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndromeYuri Yoh, Tadashi Shiohama, Tomoko Uchida, et al.
Journal of Human Genetics|January 16, 2010
A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12Masayoshi Tsuda, Takahiro Yamada, Tadashi Mikoya, et al.
Pageof 21

Showing results (81-90 of 208) with videos related to

Sort By:
Pageof 21
Brain & Development|April 8, 2021
SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantationYutaka Negishi, Yusuke Aoki, Kazuya Itomi, et al.
Brain & Development|September 26, 2025
Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variantsRyo Sugiyama, Yuko Shimizu-Motohashi, Yuka Sakata, et al.
Journal of Human Genetics|March 3, 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeSatoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, et al.
Human Mutation|October 19, 2012
KDM6A point mutations cause Kabuki syndromeNoriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, et al.
Journal of Human Genetics|February 19, 2016
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutationsKazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi, et al.
Brain & Development|January 15, 2020
POLR3A variants in striatal involvement without diffuse hypomyelinationTakuya Hiraide, Kazuo Kubota, Yu Kono, et al.
Neurogenetics|November 21, 2013
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophyChihiro Ohba, Nobuhiko Okamoto, Yoshiko Murakami, et al.
Journal of Human Genetics|March 14, 2014
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brainChihiro Ohba, Shin Nabatame, Yoshitaka Iijima, et al.
Frontiers in Genetics|August 24, 2023
Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndromeYuri Yoh, Tadashi Shiohama, Tomoko Uchida, et al.
Journal of Human Genetics|January 16, 2010
A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12Masayoshi Tsuda, Takahiro Yamada, Tadashi Mikoya, et al.
Pageof 21