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Brain & Development
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July 7, 2016
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation
Yu Kobayashi, Shinichi Magara, Kenichi Okazaki, et al.
Journal of Human Genetics
|
July 2, 2021
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review
Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2017
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency
Masaki Takagi, Kazushige Dobashi, Keiko Nagahara, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2010
Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome
Chikahiko Numakura, Sachiko Kitanaka, Mitsuhiro Kato, et al.
Brain & Development
|
September 16, 2022
ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report
Kengo Moriyama, Tomoko Mizuno, Tomonori Suzuki, et al.
Brain & Development
|
December 11, 2007
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
Jun Tohyama, Noriyuki Akasaka, Hitoshi Osaka, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2017
Novel MCA/ID syndrome with ASH1L mutation
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, et al.
American Journal of Medical Genetics. Part A
|
February 9, 2012
Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl
Rie Tsuburaya, Mitsugu Uematsu, Atsuo Kikuchi, et al.
Brain & Development
|
July 16, 2013
Serum and CSF biomarkers in acute pediatric neurological disorders
Takashi Shiihara, Taeko Miyake, Sakiko Izumi, et al.
Journal of Human Genetics
|
May 22, 2019
A novel de novo frameshift variant in SETD1B causes epilepsy
Kouhei Den, Mitsuhiro Kato, Tokito Yamaguchi, et al.
Page
of 24
Search research articles
Search
Showing results (51-60 of 238) with videos related to
Sort By:
Page
of 24
Brain & Development
|
July 7, 2016
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation
Yu Kobayashi, Shinichi Magara, Kenichi Okazaki, et al.
Journal of Human Genetics
|
July 2, 2021
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review
Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2017
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency
Masaki Takagi, Kazushige Dobashi, Keiko Nagahara, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2010
Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome
Chikahiko Numakura, Sachiko Kitanaka, Mitsuhiro Kato, et al.
Brain & Development
|
September 16, 2022
ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report
Kengo Moriyama, Tomoko Mizuno, Tomonori Suzuki, et al.
Brain & Development
|
December 11, 2007
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
Jun Tohyama, Noriyuki Akasaka, Hitoshi Osaka, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2017
Novel MCA/ID syndrome with ASH1L mutation
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, et al.
American Journal of Medical Genetics. Part A
|
February 9, 2012
Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl
Rie Tsuburaya, Mitsugu Uematsu, Atsuo Kikuchi, et al.
Brain & Development
|
July 16, 2013
Serum and CSF biomarkers in acute pediatric neurological disorders
Takashi Shiihara, Taeko Miyake, Sakiko Izumi, et al.
Journal of Human Genetics
|
May 22, 2019
A novel de novo frameshift variant in SETD1B causes epilepsy
Kouhei Den, Mitsuhiro Kato, Tokito Yamaguchi, et al.
Page
of 24