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Epileptic Disorders : International Epilepsy Journal with Videotape
|
August 7, 2018
Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive
Atsuro Daida, Shin-Ichiro Hamano, Satoru Ikemoto, et al.
Brain & Development
|
May 30, 2009
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia
Takashi Shiihara, Ken-ichi Maruyama, Yoshiyuki Yamada, et al.
Brain & Development
|
November 9, 2021
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
Hiroko Baber Matsushita, Takuya Hiraide, Katsumi Hayakawa, et al.
Neurogenetics
|
October 26, 2023
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Shintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, et al.
Brain & Development
|
November 27, 2020
Clinical variations of epileptic syndrome associated with PACS2 variant
Tomoko Mizuno, Rie Miyata, Akira Hojo, et al.
Journal of Human Genetics
|
June 25, 2021
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies
Sachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, et al.
Brain & Development
|
January 1, 2018
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report
Tadashi Shiohama, Hirofumi Ohashi, Kenji Shimizu, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
March 11, 2021
Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability
Nobuhiko Okamoto, Fuyuki Miya, Yukihiro Kitai, et al.
Human Genome Variation
|
August 8, 2018
A recurrent homozygous <i>NHLRC1</i> variant in siblings with Lafora disease
Nami Araya, Yukitoshi Takahashi, Masayuki Shimono, et al.
Brain & Development
|
June 13, 2009
Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency
Shuhei Ide, Masayuki Sasaki, Mitsuhiro Kato, et al.
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of 24
Search research articles
Search
Showing results (41-50 of 238) with videos related to
Sort By:
Page
of 24
Epileptic Disorders : International Epilepsy Journal with Videotape
|
August 7, 2018
Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive
Atsuro Daida, Shin-Ichiro Hamano, Satoru Ikemoto, et al.
Brain & Development
|
May 30, 2009
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia
Takashi Shiihara, Ken-ichi Maruyama, Yoshiyuki Yamada, et al.
Brain & Development
|
November 9, 2021
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
Hiroko Baber Matsushita, Takuya Hiraide, Katsumi Hayakawa, et al.
Neurogenetics
|
October 26, 2023
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Shintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, et al.
Brain & Development
|
November 27, 2020
Clinical variations of epileptic syndrome associated with PACS2 variant
Tomoko Mizuno, Rie Miyata, Akira Hojo, et al.
Journal of Human Genetics
|
June 25, 2021
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies
Sachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, et al.
Brain & Development
|
January 1, 2018
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report
Tadashi Shiohama, Hirofumi Ohashi, Kenji Shimizu, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
March 11, 2021
Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability
Nobuhiko Okamoto, Fuyuki Miya, Yukihiro Kitai, et al.
Human Genome Variation
|
August 8, 2018
A recurrent homozygous <i>NHLRC1</i> variant in siblings with Lafora disease
Nami Araya, Yukitoshi Takahashi, Masayuki Shimono, et al.
Brain & Development
|
June 13, 2009
Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency
Shuhei Ide, Masayuki Sasaki, Mitsuhiro Kato, et al.
Page
of 24