Suchergebnisse - "Fushimi, Takuya"

PubPharm (44)

1

Strategic validation of variants of uncertain significance inECHS1genetic testing

enthalten in: bioRxiv.org | 2024

von Kishita, Y. | Sugiura, A. | Onuki, T. | +15

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

3

Novel ITPA variants identified by whole genome sequencing and RNA sequencing

enthalten in: Journal of human genetics | 2023

von Omichi, N. | Kishita, Y. | Nakama, M. | +11

4

Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency : A Case Report

enthalten in: Pediatric neurology | 2023

von Motobayashi, M. | Munakata, S. | Kitazawa, N. | +3

5

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

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

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

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

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

10

Macroscopic Characteristics of the Native Liver in Children With MPV17-Related Mitochondrial DNA Depletion Syndrome : An Indication for Performing Liver Transplantation?

enthalten in: Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society | 2022

von Kasahara, M. | Sakamoto, S. | Fukuda, A. | +15

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