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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
September 29, 2021
Four pedigrees with aminoacyl-tRNA synthetase abnormalities
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, et al.
The Kurume Medical Journal
|
June 17, 2021
A Single-Arm Open-Label Clinical Trial on the Efficacy and Safety of Sirolimus for Epileptic Seizures Associated with Focal Cortical Dysplasia Type II: A Study Protocol
Akiko Kada, Jun Tohyama, Hideaki Shiraishi, et al.
Brain & Development
|
April 13, 2016
Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord
Mitsugu Uematsu, Kazuhiro Haginoya, Atsuo Kikuchi, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient
Jun Tohyama, Mitsuhiro Kato, Sari Kawasaki, et al.
Journal of Human Genetics
|
August 27, 2010
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1
Akiko Abe, Kazuyuki Nakamura, Mitsuhiro Kato, et al.
Neurogenetics
|
June 8, 2014
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
Mitsuko Nakashima, Hirofumi Kashii, Yoshiko Murakami, et al.
Journal of Human Genetics
|
January 30, 2015
SPTAN1 encephalopathy: distinct phenotypes and genotypes
Jun Tohyama, Mitsuko Nakashima, Shin Nabatame, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
April 15, 2015
Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother
Satoru Takeshita, Machiko Higuchi, Megumi Suyama, et al.
Journal of Human Genetics
|
November 7, 2014
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome
Mitsuko Nakashima, Masakazu Miyajima, Hidenori Sugano, et al.
Brain & Development
|
June 7, 2021
Two cases of DYNC1H1 mutations with intractable epilepsy
Ayumi Matsumoto, Karin Kojima, Fuyuki Miya, et al.
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of 24
Search research articles
Search
Showing results (71-80 of 238) with videos related to
Sort By:
Page
of 24
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
September 29, 2021
Four pedigrees with aminoacyl-tRNA synthetase abnormalities
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, et al.
The Kurume Medical Journal
|
June 17, 2021
A Single-Arm Open-Label Clinical Trial on the Efficacy and Safety of Sirolimus for Epileptic Seizures Associated with Focal Cortical Dysplasia Type II: A Study Protocol
Akiko Kada, Jun Tohyama, Hideaki Shiraishi, et al.
Brain & Development
|
April 13, 2016
Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord
Mitsugu Uematsu, Kazuhiro Haginoya, Atsuo Kikuchi, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient
Jun Tohyama, Mitsuhiro Kato, Sari Kawasaki, et al.
Journal of Human Genetics
|
August 27, 2010
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1
Akiko Abe, Kazuyuki Nakamura, Mitsuhiro Kato, et al.
Neurogenetics
|
June 8, 2014
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
Mitsuko Nakashima, Hirofumi Kashii, Yoshiko Murakami, et al.
Journal of Human Genetics
|
January 30, 2015
SPTAN1 encephalopathy: distinct phenotypes and genotypes
Jun Tohyama, Mitsuko Nakashima, Shin Nabatame, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
April 15, 2015
Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother
Satoru Takeshita, Machiko Higuchi, Megumi Suyama, et al.
Journal of Human Genetics
|
November 7, 2014
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome
Mitsuko Nakashima, Masakazu Miyajima, Hidenori Sugano, et al.
Brain & Development
|
June 7, 2021
Two cases of DYNC1H1 mutations with intractable epilepsy
Ayumi Matsumoto, Karin Kojima, Fuyuki Miya, et al.
Page
of 24