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American Journal of Medical Genetics. Part A
|
December 15, 2012
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia
Shihoko Kimura-Ohba, Kuriko Kagitani-Shimono, Natsuko Hashimoto, et al.
Journal of Human Genetics
|
October 21, 2011
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
Natsuko Hashimoto, Kuriko Kagitani-Shimono, Norio Sakai, et al.
Brain Research
|
July 5, 2012
Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly
Asako Arai, Takashi Saito, Sae Hanai, et al.
Biomedicines
|
October 26, 2024
Comprehensive High-Depth Proteomic Analysis of Plasma Extracellular Vesicles Containing Preparations in Rett Syndrome
Sho Hagiwara, Tadashi Shiohama, Satoru Takahashi, et al.
Brain & Development
|
August 3, 2020
Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome
Jun Natsume, Naoko Ishihara, Yoshiteru Azuma, et al.
Brain & Development
|
November 28, 2009
Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis
Ayako Muto, Hirokazu Oguni, Yukitoshi Takahashi, et al.
Brain & Development
|
July 21, 2020
Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome
Tomoko Saikusa, Machiko Kawaguchi, Tetsuji Tanioka Tetsu T, et al.
Journal of Medical Case Reports
|
February 13, 2022
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series
Yoshinori Satomura, Kazuhiko Bessho, Nobutoshi Nawa, et al.
Journal of Neuropathology and Experimental Neurology
|
July 9, 2014
Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy
Sayuri Sukigara, Hongmei Dai, Shin Nabatame, et al.
Brain : a Journal of Neurology
|
February 5, 2019
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy
Masayuki Itoh, Hongmei Dai, Shin-Ichi Horike, et al.
Page
of 6
Search research articles
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Showing results (31-40 of 53) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
December 15, 2012
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia
Shihoko Kimura-Ohba, Kuriko Kagitani-Shimono, Natsuko Hashimoto, et al.
Journal of Human Genetics
|
October 21, 2011
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
Natsuko Hashimoto, Kuriko Kagitani-Shimono, Norio Sakai, et al.
Brain Research
|
July 5, 2012
Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly
Asako Arai, Takashi Saito, Sae Hanai, et al.
Biomedicines
|
October 26, 2024
Comprehensive High-Depth Proteomic Analysis of Plasma Extracellular Vesicles Containing Preparations in Rett Syndrome
Sho Hagiwara, Tadashi Shiohama, Satoru Takahashi, et al.
Brain & Development
|
August 3, 2020
Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome
Jun Natsume, Naoko Ishihara, Yoshiteru Azuma, et al.
Brain & Development
|
November 28, 2009
Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis
Ayako Muto, Hirokazu Oguni, Yukitoshi Takahashi, et al.
Brain & Development
|
July 21, 2020
Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome
Tomoko Saikusa, Machiko Kawaguchi, Tetsuji Tanioka Tetsu T, et al.
Journal of Medical Case Reports
|
February 13, 2022
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series
Yoshinori Satomura, Kazuhiko Bessho, Nobutoshi Nawa, et al.
Journal of Neuropathology and Experimental Neurology
|
July 9, 2014
Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy
Sayuri Sukigara, Hongmei Dai, Shin Nabatame, et al.
Brain : a Journal of Neurology
|
February 5, 2019
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy
Masayuki Itoh, Hongmei Dai, Shin-Ichi Horike, et al.
Page
of 6