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European Journal of Medical Genetics
|
December 27, 2016
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report
Yoshiichi Abe, Atsuko Matsuduka, Kazuo Okanari, et al.
Epilepsy Research
|
June 12, 2019
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy
Hirokazu Oguni, Aiko Nishikawa, Yu Sato, et al.
The Journal of Pediatrics
|
October 6, 2009
Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype
Kana Hosoki, Masayo Kagami, Touju Tanaka, et al.
Brain & Development
|
November 24, 2020
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis
Akiko Hiraiwa, Kou Matsui, Yumi Nakayama, et al.
Journal of Human Genetics
|
January 12, 2024
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, et al.
Epilepsia
|
July 11, 2006
Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy
Takanori Kamimura, Jun Tohyama, Makoto Oishi, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2008
Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36
Shoji Saito, Rie Kawamura, Tomoki Kosho, et al.
Brain & Development
|
October 21, 2015
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders
Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, et al.
No to Hattatsu = Brain and Development
|
January 29, 2005
[No association between moyamoya disease and polymorphism of IGF2R]
Toshiyuki Yamamoto, Yuko Akasaka, Kyoichi Ohtani, et al.
Brain & Development
|
March 27, 2013
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease
Norikatsu Hikita, Hideji Hattori, Mitsuhiro Kato, et al.
Page
of 24
Search research articles
Search
Showing results (81-90 of 238) with videos related to
Sort By:
Page
of 24
European Journal of Medical Genetics
|
December 27, 2016
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report
Yoshiichi Abe, Atsuko Matsuduka, Kazuo Okanari, et al.
Epilepsy Research
|
June 12, 2019
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy
Hirokazu Oguni, Aiko Nishikawa, Yu Sato, et al.
The Journal of Pediatrics
|
October 6, 2009
Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype
Kana Hosoki, Masayo Kagami, Touju Tanaka, et al.
Brain & Development
|
November 24, 2020
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis
Akiko Hiraiwa, Kou Matsui, Yumi Nakayama, et al.
Journal of Human Genetics
|
January 12, 2024
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, et al.
Epilepsia
|
July 11, 2006
Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy
Takanori Kamimura, Jun Tohyama, Makoto Oishi, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2008
Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36
Shoji Saito, Rie Kawamura, Tomoki Kosho, et al.
Brain & Development
|
October 21, 2015
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders
Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, et al.
No to Hattatsu = Brain and Development
|
January 29, 2005
[No association between moyamoya disease and polymorphism of IGF2R]
Toshiyuki Yamamoto, Yuko Akasaka, Kyoichi Ohtani, et al.
Brain & Development
|
March 27, 2013
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease
Norikatsu Hikita, Hideji Hattori, Mitsuhiro Kato, et al.
Page
of 24