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Mitsuko Nakashima

Showing results (191-200 of 208) with videos related to

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Journal of Human Genetics|January 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndromeKazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, et al.
Journal of Human Genetics|February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese populationKoichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Epilepsia Open|September 11, 2020
Clinical and genetic characteristics of patients with Doose syndromeNodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Acta Neuropathologica Communications|March 2, 2023
An integrated genetic analysis of epileptogenic brain malformed lesionsAtsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, et al.
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Neurology|August 13, 2013
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathyNoriko Miyake, Ryoko Fukai, Chihiro Ohba, et al.
EMBO Molecular Medicine|November 28, 2024
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndromeEfil Bayam, Peggy Tilly, Stephan C Collins, et al.
Nature Genetics|January 31, 2006
A SNP in the ABCC11 gene is the determinant of human earwax typeKoh-ichiro Yoshiura, Akira Kinoshita, Takafumi Ishida, et al.
Pageof 21

Showing results (191-200 of 208) with videos related to

Sort By:
Pageof 21
Journal of Human Genetics|January 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndromeKazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, et al.
Journal of Human Genetics|February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese populationKoichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.
Epilepsia Open|September 11, 2020
Clinical and genetic characteristics of patients with Doose syndromeNodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Acta Neuropathologica Communications|March 2, 2023
An integrated genetic analysis of epileptogenic brain malformed lesionsAtsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, et al.
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Neurology|August 13, 2013
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathyNoriko Miyake, Ryoko Fukai, Chihiro Ohba, et al.
EMBO Molecular Medicine|November 28, 2024
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndromeEfil Bayam, Peggy Tilly, Stephan C Collins, et al.
Nature Genetics|January 31, 2006
A SNP in the ABCC11 gene is the determinant of human earwax typeKoh-ichiro Yoshiura, Akira Kinoshita, Takafumi Ishida, et al.
Pageof 21