Masakazu Kohda
4PUBLICATIONS
11CO-AUTHORS
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Publications (4)
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|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
|Aug 05, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.Yoshihito Kishita, Masaru Shimura, Masakazu Kohda
|Jan 27, 2017
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.Nurun N Borna, Yoshihito Kishita, Kaori Ishikawa
|Jul 01, 2016
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.Atsuko Imai, Masakazu Kohda, Akihiro Nakaya
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Frequent Collaborators
2 joint publications
Yoshihito Kishita
2 joint publications
Masaru Shimura
2 joint publications
Yukiko Yatsuka
2 joint publications
Akira Ohtake
2 joint publications
Kei Murayama
2 joint publications
Yasushi Okazaki
1 joint publications
Atsuko Imai-Okazaki
1 joint publications
Takuya Fushimi
1 joint publications
Kazuhiro R Nitta
1 joint publications
Shinichi Hirose
