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Journal of Neurology
|
October 1, 2009
Brain volume analyses and somatosensory evoked potentials in multiple system atrophy
Satoko Miyatake, Hitoshi Mochizuki, Tetsuji Naka, et al.
Journal of Human Genetics
|
August 15, 2019
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing
Ahmed N Alkanaq, Kohei Hamanaka, Futoshi Sekiguchi, et al.
Molecular and Clinical Oncology
|
March 20, 2020
Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with <i>PTEN</i> hamartoma tumor syndrome: A case report
Yuka Yotsumoto, Atsuko Harada, Jiro Tsugawa, et al.
Human Genome Variation
|
May 25, 2021
Cerebrovascular diseases in two patients with entire NSD1 deletion
Toshiyuki Itai, Satoko Miyatake, Taku Hatano, et al.
Brain & Development
|
July 30, 2022
A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing
Yuto Arai, Tohru Okanishi, Sotaro Kanai, et al.
NAR Genomics and Bioinformatics
|
December 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencing
Yasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto, et al.
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.
Journal of the Neurological Sciences
|
October 31, 2023
Case series: Downbeat nystagmus in SCA27B
Shinichi Shirai, Keiichi Mizushima, Keishi Fujiwara, et al.
Journal of the Neurological Sciences
|
December 17, 2009
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings
Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, et al.
Page
of 22
Search research articles
Search
Showing results (31-40 of 212) with videos related to
Sort By:
Page
of 22
Journal of Neurology
|
October 1, 2009
Brain volume analyses and somatosensory evoked potentials in multiple system atrophy
Satoko Miyatake, Hitoshi Mochizuki, Tetsuji Naka, et al.
Journal of Human Genetics
|
August 15, 2019
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing
Ahmed N Alkanaq, Kohei Hamanaka, Futoshi Sekiguchi, et al.
Molecular and Clinical Oncology
|
March 20, 2020
Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with <i>PTEN</i> hamartoma tumor syndrome: A case report
Yuka Yotsumoto, Atsuko Harada, Jiro Tsugawa, et al.
Human Genome Variation
|
May 25, 2021
Cerebrovascular diseases in two patients with entire NSD1 deletion
Toshiyuki Itai, Satoko Miyatake, Taku Hatano, et al.
Brain & Development
|
July 30, 2022
A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing
Yuto Arai, Tohru Okanishi, Sotaro Kanai, et al.
NAR Genomics and Bioinformatics
|
December 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencing
Yasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto, et al.
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.
Journal of the Neurological Sciences
|
October 31, 2023
Case series: Downbeat nystagmus in SCA27B
Shinichi Shirai, Keiichi Mizushima, Keishi Fujiwara, et al.
Journal of the Neurological Sciences
|
December 17, 2009
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings
Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, et al.
Page
of 22