Masaru Shimura
9PUBLICATIONS
32CO-AUTHORS
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Publications (9)
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|Nov 07, 2024
Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.Yoshihito Kishita, Ayumu Sugiura, Nanako Omichi
|Apr 13, 2023
Strategic validation of variants of uncertain significance in <i>ECHS1</i> genetic testing.Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki
|Oct 09, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama
|Aug 18, 2021
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.Yoshihito Kishita, Masaru Shimura, Masakazu Kohda
|May 28, 2021
Hepcidin Levels and Pathological Characteristics in Children with Fatty Liver Disease.Norito Tsutsumi, Shigeo Nishimata, Masaru Shimura
|Aug 05, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.Yoshihito Kishita, Masaru Shimura, Masakazu Kohda
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Frequent Collaborators
6 joint publications
Yukiko Yatsuka
6 joint publications
Yoshihito Kishita
6 joint publications
Akira Ohtake
6 joint publications
Kei Murayama
6 joint publications
Yasushi Okazaki
3 joint publications
Kazuhiro R Nitta
2 joint publications
Hisashi Kawashima
2 joint publications
Takuya Fushimi
2 joint publications
Atsuko Imai-Okazaki
2 joint publications
Masakazu Kohda
