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American Journal of Medical Genetics. Part A
|
March 9, 2007
Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene
Shozo Honda, Shin Hayashi, Mitsuhiro Kato, et al.
Seizure
|
June 9, 2019
Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation
Nobutsune Ishikawa, Yuichi Tateishi, Hiroo Tani, et al.
Journal of Child Neurology
|
January 28, 2003
Contrast sensitivity of patients with severe motor and intellectual disabilities and cerebral visual impairment
Shinya Sakai, Kazumi Hirayama, Syoichi Iwasaki, et al.
Journal of Human Genetics
|
September 26, 2014
KIF1A mutation in a patient with progressive neurodegeneration
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, et al.
Brain & Development
|
March 4, 2023
Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II
Hideaki Shiraishi, Tsuyoshi Teramoto, Saki Yokoshiki, et al.
Journal of Human Genetics
|
October 18, 2022
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome
Takuya Hiraide, Tenpei Akita, Kenji Uematsu, et al.
American Journal of Human Genetics
|
August 2, 2007
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, et al.
Congenital Anomalies
|
July 27, 2017
Progressive subglottic stenosis in a child with Pallister-Killian syndrome
Tadashi Shiohama, Katsunori Fujii, Kenji Shimizu, et al.
Development, Growth & Differentiation
|
February 12, 2009
Kidney regeneration through nephron neogenesis in medaka
Naoki Watanabe, Mitsuhiro Kato, Norihiko Suzuki, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
November 23, 2014
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3
Atsuko Harada, Fuyuki Miya, Hidetsuna Utsunomiya, et al.
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Search research articles
Search
Showing results (61-70 of 238) with videos related to
Sort By:
Page
of 24
American Journal of Medical Genetics. Part A
|
March 9, 2007
Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene
Shozo Honda, Shin Hayashi, Mitsuhiro Kato, et al.
Seizure
|
June 9, 2019
Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation
Nobutsune Ishikawa, Yuichi Tateishi, Hiroo Tani, et al.
Journal of Child Neurology
|
January 28, 2003
Contrast sensitivity of patients with severe motor and intellectual disabilities and cerebral visual impairment
Shinya Sakai, Kazumi Hirayama, Syoichi Iwasaki, et al.
Journal of Human Genetics
|
September 26, 2014
KIF1A mutation in a patient with progressive neurodegeneration
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, et al.
Brain & Development
|
March 4, 2023
Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II
Hideaki Shiraishi, Tsuyoshi Teramoto, Saki Yokoshiki, et al.
Journal of Human Genetics
|
October 18, 2022
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome
Takuya Hiraide, Tenpei Akita, Kenji Uematsu, et al.
American Journal of Human Genetics
|
August 2, 2007
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, et al.
Congenital Anomalies
|
July 27, 2017
Progressive subglottic stenosis in a child with Pallister-Killian syndrome
Tadashi Shiohama, Katsunori Fujii, Kenji Shimizu, et al.
Development, Growth & Differentiation
|
February 12, 2009
Kidney regeneration through nephron neogenesis in medaka
Naoki Watanabe, Mitsuhiro Kato, Norihiko Suzuki, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
November 23, 2014
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3
Atsuko Harada, Fuyuki Miya, Hidetsuna Utsunomiya, et al.
Page
of 24