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Journal of Human Genetics
|
December 19, 2022
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities
Mitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
January 1, 2026
Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na<sup>+</sup>/K<sup>+</sup>-ATPase levels in a cell model
Sachiko Miyamoto, Shun-Ichi Yamashita, Hazrat Belal, et al.
Brain & Development
|
June 17, 2018
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene
Tatsuharu Sato, Mitsuhiro Kato, Kaoru Moriyama, et al.
European Journal of Pediatrics
|
May 10, 2002
Cerebrospinal fluid levels of cytokines and soluble tumour necrosis factor receptor in acute disseminated encephalomyelitis
Takashi Ichiyama, Hiroshi Shoji, Mitsuhiro Kato, et al.
American Journal of Medical Genetics. Part A
|
October 23, 2023
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence
Shogo Furukawa, Mitsuhiro Kato, Toshihiro Nomura, et al.
Journal of the Neurological Sciences
|
August 29, 2006
Acute encephalopathy with refractory status epilepticus: bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage
Takashi Shiihara, Mitsuhiro Kato, Takashi Ichiyama, et al.
Neurology. Genetics
|
May 27, 2022
A New Case With Cortical Malformation Caused by Biallelic Variants in <i>LAMC3</i>
Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, et al.
Journal of Child Neurology
|
August 2, 2002
Progressive sliding hiatal hernia as a complication of Menkes' syndrome
Takashi Shiihara, Mitsuhiro Kato, Tomomi Honma, et al.
Annals of Human Genetics
|
July 7, 2026
Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant
Takuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, et al.
Pediatrics
|
August 20, 2016
Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report
Rieko Sato, Jun-Ichi Takanashi, Yu Tsuyusaki, et al.
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Search research articles
Search
Showing results (31-40 of 238) with videos related to
Sort By:
Page
of 24
Journal of Human Genetics
|
December 19, 2022
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities
Mitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
January 1, 2026
Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na<sup>+</sup>/K<sup>+</sup>-ATPase levels in a cell model
Sachiko Miyamoto, Shun-Ichi Yamashita, Hazrat Belal, et al.
Brain & Development
|
June 17, 2018
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene
Tatsuharu Sato, Mitsuhiro Kato, Kaoru Moriyama, et al.
European Journal of Pediatrics
|
May 10, 2002
Cerebrospinal fluid levels of cytokines and soluble tumour necrosis factor receptor in acute disseminated encephalomyelitis
Takashi Ichiyama, Hiroshi Shoji, Mitsuhiro Kato, et al.
American Journal of Medical Genetics. Part A
|
October 23, 2023
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence
Shogo Furukawa, Mitsuhiro Kato, Toshihiro Nomura, et al.
Journal of the Neurological Sciences
|
August 29, 2006
Acute encephalopathy with refractory status epilepticus: bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage
Takashi Shiihara, Mitsuhiro Kato, Takashi Ichiyama, et al.
Neurology. Genetics
|
May 27, 2022
A New Case With Cortical Malformation Caused by Biallelic Variants in <i>LAMC3</i>
Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, et al.
Journal of Child Neurology
|
August 2, 2002
Progressive sliding hiatal hernia as a complication of Menkes' syndrome
Takashi Shiihara, Mitsuhiro Kato, Tomomi Honma, et al.
Annals of Human Genetics
|
July 7, 2026
Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant
Takuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, et al.
Pediatrics
|
August 20, 2016
Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report
Rieko Sato, Jun-Ichi Takanashi, Yu Tsuyusaki, et al.
Page
of 24