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Kohda, Masakazu
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1

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics.  111 (2024)  5 - p. 996 , 2024
Link: https://doi.org/10.1016/..
 
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2

A Japanese patient with neonatal biotin-responsive basal ga..:

Kobayashi, Mizuki ; Suzuki, Yuichi ; Nodera, Maki...
Human Genome Variation.  9 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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3

Immunohistochemical staining patterns of p53 predict the mu..:

Sawada, Keisuke ; Momose, Shuji ; Kawano, Ryutaro...
Modern Pathology.  35 (2022)  2 - p. 177-185 , 2022
Link: https://doi.org/10.1038/..
 
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4

Establishment of preanalytical conditions for microRNA prof..:

Suzuki, Kuno ; Yamaguchi, Tatsuya ; Kohda, Masakazu...
PLOS ONE.  17 (2022)  12 - p. e0278927 , 2022
Link: https://doi.org/10.1371/..
 
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5

Author Correction: Prenatal diagnosis of severe mitochondri..:

Akiyama, Nana ; Shimura, Masaru ; Yamazaki, Taro...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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6

A high mutation load of m.14597A>G in MT-ND6 causes Leigh s..:

Kishita, Yoshihito ; Ishikawa, Kaori ; Nakada, Kazuto...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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7

Valine metabolites analysis in ECHS1 deficiency:

Kuwajima, Mari ; Kojima, Karin ; Osaka, Hitoshi...
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100809 , 2021
Link: https://doi.org/10.1016/..
 
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8

Long-term prognosis and genetic background of cardiomyopath..:

Imai-Okazaki, Atsuko ; Matsunaga, Ayako ; Yatsuka, Yukiko...
International Journal of Cardiology.  341 (2021)  - p. 48-55 , 2021
Link: https://doi.org/10.1016/..
 
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9

Prenatal diagnosis of severe mitochondrial diseases caused ..:

Akiyama, Nana ; Shimura, Masaru ; Yamazaki, Taro...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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10

A novel homozygous variant in MICOS13/QIL1 causes hepato‐en..:

Kishita, Yoshihito ; Shimura, Masaru ; Kohda, Masakazu...
Molecular Genetics & Genomic Medicine.  8 (2020)  10 - p. , 2020
Link: https://doi.org/10.1002/..
 
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11

Mortality of Japanese patients with Leigh syndrome: Effects..:

Ogawa, Erika ; Fushimi, Takuya ; Ogawa‐Tominaga, Minako...
Journal of Inherited Metabolic Disease.  43 (2020)  4 - p. 819-826 , 2020
Link: https://doi.org/10.1002/..
 
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12

Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting..:

Borna, Nurun Nahar ; Kishita, Yoshihito ; Sakai, Norio...
Genes.  11 (2020)  11 - p. 1325 , 2020
Link: https://doi.org/10.3390/..
 
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13

Ski3/TTC37 deficiency associated with trichohepatoenteric s..:

Ohnuma, Kohei ; Kishita, Yoshihito ; Nyuzuki, Hiromi...
FEBS Letters.  594 (2020)  13 - p. 2168-2181 , 2020
Link: https://doi.org/10.1002/..
 
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14

Mitochondrial complex deficiency by novel compound heterozy..:

Hirono, Keiichi ; Ichida, Fukiko ; Nishio, Natsuhito...
Clinical Case Reports.  7 (2019)  3 - p. 553-557 , 2019
Link: https://doi.org/10.1002/..
 
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15

Cardiomyopathy in children with mitochondrial disease: Prog..:

Imai-Okazaki, Atsuko ; Kishita, Yoshihito ; Kohda, Masakazu...
International Journal of Cardiology.  279 (2019)  - p. 115-121 , 2019
Link: https://doi.org/10.1016/..
 
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