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Human Genome Variation
|
February 17, 2021
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, et al.
Brain & Development
|
July 9, 2017
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, et al.
Laryngoscope Investigative Otolaryngology
|
October 6, 2025
Long-Term Outcomes of Microdebrider-Assisted Endoscopic Powered Intracapsular Tonsillectomy and Adenoidectomy in Pediatric Obstructive Sleep Apnea: A Questionnaire-Based Observational Study
Ryota Koshu, Masao Noda, Haruna Nakamoto, et al.
Human Genome Variation
|
September 14, 2022
The ATRX splicing variant c.21-1G>A is asymptomatic
Karin Kojima, Takahito Wada, Hiroko Shimbo, et al.
Brain & Development
|
May 11, 2015
Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients
Zhiliang Yang, Ayumi Matsumoto, Kazuhiro Nakayama, et al.
Brain & Development
|
September 5, 2021
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype
Yuiko Hasegawa, Eriko Nishi, Yuko Mishima, et al.
Journal of Human Genetics
|
August 30, 2013
An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities
Ayumi Matsumoto, Mari Kuwajima, Kunio Miyake, et al.
Brain & Development
|
June 7, 2021
Two cases of DYNC1H1 mutations with intractable epilepsy
Ayumi Matsumoto, Karin Kojima, Fuyuki Miya, et al.
Scientific Reports
|
December 3, 2024
Perampanel reduces seizure frequency in patients with developmental and epileptic encephalopathy for a long term
Hirokazu Yamagishi, Hitoshi Osaka, Kazuhiro Muramatsu, et al.
Brain & Development
|
July 4, 2016
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition
Karin Kojima, Rie Anzai, Chihiro Ohba, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
Human Genome Variation
|
February 17, 2021
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, et al.
Brain & Development
|
July 9, 2017
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, et al.
Laryngoscope Investigative Otolaryngology
|
October 6, 2025
Long-Term Outcomes of Microdebrider-Assisted Endoscopic Powered Intracapsular Tonsillectomy and Adenoidectomy in Pediatric Obstructive Sleep Apnea: A Questionnaire-Based Observational Study
Ryota Koshu, Masao Noda, Haruna Nakamoto, et al.
Human Genome Variation
|
September 14, 2022
The ATRX splicing variant c.21-1G>A is asymptomatic
Karin Kojima, Takahito Wada, Hiroko Shimbo, et al.
Brain & Development
|
May 11, 2015
Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients
Zhiliang Yang, Ayumi Matsumoto, Kazuhiro Nakayama, et al.
Brain & Development
|
September 5, 2021
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype
Yuiko Hasegawa, Eriko Nishi, Yuko Mishima, et al.
Journal of Human Genetics
|
August 30, 2013
An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities
Ayumi Matsumoto, Mari Kuwajima, Kunio Miyake, et al.
Brain & Development
|
June 7, 2021
Two cases of DYNC1H1 mutations with intractable epilepsy
Ayumi Matsumoto, Karin Kojima, Fuyuki Miya, et al.
Scientific Reports
|
December 3, 2024
Perampanel reduces seizure frequency in patients with developmental and epileptic encephalopathy for a long term
Hirokazu Yamagishi, Hitoshi Osaka, Kazuhiro Muramatsu, et al.
Brain & Development
|
July 4, 2016
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition
Karin Kojima, Rie Anzai, Chihiro Ohba, et al.
Page
of 2