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American Journal of Medical Genetics. Part A|November 24, 2017
Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1Toshiki Takenouchi, Mie Inaba, Tomoko Uehara, et al.
Human Genome Variation|November 15, 2022
Atypical Sotos syndrome caused by a novel splice site variantMari Minatogawa, Taichi Tsuji, Mie Inaba, et al.
The European Journal of Neuroscience|July 29, 2008
Involvement of T-type Ca2+ channels in the potentiation of synaptic and visual responses during the critical period in rat visual cortexYumiko Yoshimura, Mie Inaba, Kazumasa Yamada, et al.
American Journal of Medical Genetics. Part A|December 31, 2020
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizuresHisato Suzuki, Mie Inaba, Mamiko Yamada, et al.
Epilepsy & Behavior Reports|December 21, 2020
Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case reportYasunobu Nosaki, Ken Ohyama, Maki Watanabe, et al.
American Journal of Medical Genetics. Part A|April 2, 2024
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephalyMamiko Yamada, Seiji Mizuno, Mie Inaba, et al.
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