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Mitsuko Nakashima

Showing results (91-100 of 208) with videos related to

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Brain & Development|June 30, 2020
A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assaySatoru Ikemoto, Shin-Ichiro Hamano, Kenjiro Kikuchi, et al.
Epilepsia|January 15, 2014
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levelsKazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, et al.
Human Genetics|October 9, 2013
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?Eri Imagawa, Hitoshi Osaka, Akio Yamashita, et al.
Human Genetics|November 14, 2015
Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencingAtsushi Fujita, Katsutoshi Ando, Etsuko Kobayashi, et al.
Journal of Human Genetics|February 8, 2018
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial featuresFutoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, et al.
Human Genome Variation|April 16, 2016
A novel PITX2 mutation causing iris hypoplasiaMasashi Kimura, Yoshihito Tokita, Junichiro Machida, et al.
Journal of Human Genetics|July 21, 2017
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelinationGaku Minase, Satoko Miyatake, Shin Nabatame, et al.
Journal of Human Genetics|January 6, 2026
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disordersTaiju Hayashi, Sachiko Miyamoto, Yusaku Endo, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastomaAtsushi Fujita, Nobuhiko Ochi, Hidehiko Fujimaki, et al.
Journal of Human Genetics|January 29, 2016
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizuresRyoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, et al.
Pageof 21

Showing results (91-100 of 208) with videos related to

Sort By:
Pageof 21
Brain & Development|June 30, 2020
A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assaySatoru Ikemoto, Shin-Ichiro Hamano, Kenjiro Kikuchi, et al.
Epilepsia|January 15, 2014
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levelsKazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, et al.
Human Genetics|October 9, 2013
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?Eri Imagawa, Hitoshi Osaka, Akio Yamashita, et al.
Human Genetics|November 14, 2015
Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencingAtsushi Fujita, Katsutoshi Ando, Etsuko Kobayashi, et al.
Journal of Human Genetics|February 8, 2018
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial featuresFutoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, et al.
Human Genome Variation|April 16, 2016
A novel PITX2 mutation causing iris hypoplasiaMasashi Kimura, Yoshihito Tokita, Junichiro Machida, et al.
Journal of Human Genetics|July 21, 2017
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelinationGaku Minase, Satoko Miyatake, Shin Nabatame, et al.
Journal of Human Genetics|January 6, 2026
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disordersTaiju Hayashi, Sachiko Miyamoto, Yusaku Endo, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastomaAtsushi Fujita, Nobuhiko Ochi, Hidehiko Fujimaki, et al.
Journal of Human Genetics|January 29, 2016
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizuresRyoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, et al.
Pageof 21