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Brain & Development
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December 21, 2020
Refractory cerebral infarction in a child with an ACTA2 mutation
Keita Kanamori, Yuri Sakaguchi, Kyoji Tsuda, et al.
Journal of Child Neurology
|
June 10, 2016
Epidemiology of Pediatric Convulsive Status Epilepticus With Fever in the Emergency Department: A Cohort Study of 381 Consecutive Cases
Itaru Hayakawa, Sahoko Miyama, Nobuaki Inoue, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis
Yuri Sakaguchi, Hiroshi Yoshihashi, Tomoko Uehara, et al.
Pediatric Neurology
|
October 11, 2014
The absence of later wave components in auditory brainstem responses as an initial manifestation of type 2 Gaucher disease
Yusuke Okubo, Masahiro Goto, Hiroshi Sakakibara, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
May 24, 2022
Symptomatic enophthalmos due to sphenoid wing dysplasia appearing over 12 years in a patient with neurofibromatosis type 1: a case report and literature review
Shuhei Fujino, Mikako Enokizono, Ikkei Tamada, et al.
Brain & Development
|
February 21, 2026
Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report
Ryoko Asahara, Mikako Enokizono, Eri Ogawa, et al.
American Journal of Medical Genetics. Part A
|
August 12, 2016
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation
Toshiki Takenouchi, Hiroshi Yoshihashi, Yuri Sakaguchi, et al.
American Journal of Medical Genetics. Part A
|
April 5, 2017
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype
Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, et al.
Clinical and Experimental Nephrology
|
December 15, 2010
Children with posterior reversible encephalopathy syndrome associated with atypical diffusion-weighted imaging and apparent diffusion coefficient
Kenji Ishikura, Yuko Hamasaki, Tomoyuki Sakai, et al.
American Journal of Medical Genetics. Part A
|
April 16, 2005
Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome
Toshiyuki Yamamoto, Kenji Kurosawa, Mitsuo Masuno, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 36) with videos related to
Sort By:
Page
of 4
Brain & Development
|
December 21, 2020
Refractory cerebral infarction in a child with an ACTA2 mutation
Keita Kanamori, Yuri Sakaguchi, Kyoji Tsuda, et al.
Journal of Child Neurology
|
June 10, 2016
Epidemiology of Pediatric Convulsive Status Epilepticus With Fever in the Emergency Department: A Cohort Study of 381 Consecutive Cases
Itaru Hayakawa, Sahoko Miyama, Nobuaki Inoue, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis
Yuri Sakaguchi, Hiroshi Yoshihashi, Tomoko Uehara, et al.
Pediatric Neurology
|
October 11, 2014
The absence of later wave components in auditory brainstem responses as an initial manifestation of type 2 Gaucher disease
Yusuke Okubo, Masahiro Goto, Hiroshi Sakakibara, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
May 24, 2022
Symptomatic enophthalmos due to sphenoid wing dysplasia appearing over 12 years in a patient with neurofibromatosis type 1: a case report and literature review
Shuhei Fujino, Mikako Enokizono, Ikkei Tamada, et al.
Brain & Development
|
February 21, 2026
Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report
Ryoko Asahara, Mikako Enokizono, Eri Ogawa, et al.
American Journal of Medical Genetics. Part A
|
August 12, 2016
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation
Toshiki Takenouchi, Hiroshi Yoshihashi, Yuri Sakaguchi, et al.
American Journal of Medical Genetics. Part A
|
April 5, 2017
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype
Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, et al.
Clinical and Experimental Nephrology
|
December 15, 2010
Children with posterior reversible encephalopathy syndrome associated with atypical diffusion-weighted imaging and apparent diffusion coefficient
Kenji Ishikura, Yuko Hamasaki, Tomoyuki Sakai, et al.
American Journal of Medical Genetics. Part A
|
April 16, 2005
Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome
Toshiyuki Yamamoto, Kenji Kurosawa, Mitsuo Masuno, et al.
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of 4