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/vufind/Search/Results?lookfor=%22Ebihara%2C+Tomohiro%22&type=Person&sort=year
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PubPharm (26)
1
Strategic validation of variants of uncertain significance in
ECHS1
genetic testing
enthalten in:
bioRxiv.org
| 2024
von
Kishita, Y.
|
Sugiura, A.
|
Onuki, T.
| +15
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2
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
enthalten in:
Journal of medical genetics
| 2023
von
Kishita, Y.
|
Sugiura, A.
|
Onuki, T.
| +15
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3
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease
enthalten in:
Molecular genetics and metabolism reports
| 2023
von
Watanabe, C.
|
Osaka, H.
|
Watanabe, M.
| +12
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4
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
enthalten in:
Molecular genetics and metabolism reports
| 2022
von
Ebihara, T.
|
Nagatomo, T.
|
Sugiyama, Y.
| +16
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5
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease
enthalten in:
Journal of inherited metabolic disease
| 2022
von
Imai-Okazaki, A.
|
Nitta, K.
|
Yatsuka, Y.
| +9
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6
Prenatal Diagnosis of Severe Mitochondrial Diseases Caused by Nuclear Gene Defects: A Study in Japan
enthalten in:
ResearchSquare.com
| 2022
von
Akiyama, N.
|
Shimura, M.
|
Yamazaki, T.
| +16
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7
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: Evaluation of outcomes after liver transplantation
enthalten in:
ResearchSquare.com
| 2022
von
Shimura, M.
|
Kuranobu, N.
|
Ogawa-Tominaga, M.
| +21
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8
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: Evaluation of outcomes after liver transplantation
enthalten in:
ResearchSquare.com
| 2022
von
Shimura, M.
|
Kuranobu, N.
|
Ogawa-Tominaga, M.
| +21
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9
Neonatal-onset mitochondrial disease : clinical features, molecular diagnosis and prognosis
enthalten in:
Archives of disease in childhood. Fetal and neonatal edition
| 2022
von
Ebihara, T.
|
Nagatomo, T.
|
Sugiyama, Y.
| +17
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10
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
enthalten in:
Mitochondrion
| 2022
von
Shimura, M.
|
Onuki, T.
|
Sugiyama, Y.
| +14
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Orphanet journal of rare diseases
4
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bioRxiv.org
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11
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5
Mitochondrial disease
5
Research Support, Non-U.S. Gov't
4
570
4
Biology
4
DNA, Mitochondrial
4
Liver transplantation
3
Alkaline phosphatase
3
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3
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3
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3
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3
Hypophosphatasia
3
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3
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3
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3
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1
ATAC-seq
1
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1
ATAD3A, ATPase family AAA-domain containing pro...
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Erscheinungszeitraum
22
2020-
2
2010-2019
2
2000-2009
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