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Internal Medicine (Tokyo, Japan)
|
August 20, 2010
Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene
Rinako Sadakata, Atsushi Hatamochi, Keiji Kodama, et al.
The FEBS Journal
|
August 13, 2022
Loss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function
Harrison Burgin, Alice J Sharpe, Shuai Nie, et al.
Brain & Development
|
March 29, 2011
Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy
Chikako Arakawa, Ayumi Endo, Ryutaro Kohira, et al.
Brain & Development
|
March 7, 2018
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation
Akihiko Miyauchi, Hitoshi Osaka, Masako Nagashima, et al.
JIMD Reports
|
June 4, 2016
Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions
Takashi Higuchi, Masahisa Kobayashi, Jin Ogata, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
November 7, 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, et al.
Brain & Development
|
March 5, 2018
An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation
Makoto Nishioka, Yuji Inaba, Mitsuo Motobayashi, et al.
Molecular Genetics & Genomic Medicine
|
August 5, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
June 7, 2016
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate
Yuya Hashimura, Ichiro Morioka, Chieko Hisamatsu, et al.
Human Mutation
|
August 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, et al.
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of 17
Search research articles
Search
Showing results (61-70 of 162) with videos related to
Sort By:
Page
of 17
Internal Medicine (Tokyo, Japan)
|
August 20, 2010
Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene
Rinako Sadakata, Atsushi Hatamochi, Keiji Kodama, et al.
The FEBS Journal
|
August 13, 2022
Loss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function
Harrison Burgin, Alice J Sharpe, Shuai Nie, et al.
Brain & Development
|
March 29, 2011
Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy
Chikako Arakawa, Ayumi Endo, Ryutaro Kohira, et al.
Brain & Development
|
March 7, 2018
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation
Akihiko Miyauchi, Hitoshi Osaka, Masako Nagashima, et al.
JIMD Reports
|
June 4, 2016
Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions
Takashi Higuchi, Masahisa Kobayashi, Jin Ogata, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
November 7, 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, et al.
Brain & Development
|
March 5, 2018
An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation
Makoto Nishioka, Yuji Inaba, Mitsuo Motobayashi, et al.
Molecular Genetics & Genomic Medicine
|
August 5, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
June 7, 2016
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate
Yuya Hashimura, Ichiro Morioka, Chieko Hisamatsu, et al.
Human Mutation
|
August 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, et al.
Page
of 17