E-LIB Suche - Ergebnisse für: Onuki, Takanori

1

Genetic, metabolic and clinical delineation of an MRPS23-as..:

Ittiwut, Chupong ; Ittiwut, Rungnapa ; Kuptanon, Chulaluck...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

2

A Study of Maternal Patients Diagnosed with Inborn Errors o..:

Onuki, Takanori ; Hiroshima, Shota ; Sawano, Kentaro...
Children. 10 (2023) 8 - p. 1341 , 2023

Link: https://doi.org/10.3390/..

3

Total and reduced/oxidized forms of coenzyme Q10 in fibrobl..:

Watanabe, Chika ; Osaka, Hitoshi ; Watanabe, Miyuki...
Molecular Genetics and Metabolism Reports. 34 (2023) - p. 100951 , 2023

Link: https://doi.org/10.1016/..

4

Development of Leigh syndrome with a high probability of ca..:

Shimura, Masaru ; Onuki, Takanori ; Sugiyama, Yohei...
Mitochondrion. 63 (2022) - p. 1-8 , 2022

Link: https://doi.org/10.1016/..

5

Impact of measuring heteroplasmy of a pathogenic mitochondr..:

Imai‐Okazaki, Atsuko ; Nitta, Kazuhiro R. ; Yatsuka, Yukiko...
Journal of Inherited Metabolic Disease. 45 (2022) 6 - p. 1143-1150 , 2022

Link: https://doi.org/10.1002/..

6

A Japanese family with a heterozygous novel mutation in the..:

Onuki, Takanori ; Shibata, Nao ; Hiroshima, Shota..
Congenital Anomalies. 62 (2021) 1 - p. 47-48 , 2021

Link: https://doi.org/10.1111/..

7

Two cases of cytochromeP450oxidoreductase deficiency with s..:

Onuki, Takanori ; Ohtsu, Yoshiaki ; Hiroshima, Shota..
Congenital Anomalies. 61 (2021) 5 - p. 202-203 , 2021

Link: https://doi.org/10.1111/..

8

Abnormal pupillary light reflex with chromatic pupillometry..:

Narita, Aya ; Shirai, Kentarou ; Kubota, Norika...
Annals of Clinical and Translational Neurology. 1 (2014) 2 - p. 135-140 , 2014

Link: https://doi.org/10.1002/..

9

Total and reduced/oxidized forms of coenzyme Q(10) in fibro..:

Watanabe, Chika ; Osaka, Hitoshi ; Watanabe, Miyuki...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826971/. , 2023

Link: http://www.ncbi.nlm.nih...

10

Genetic, metabolic and clinical delineation of an MRPS23-as..:

Ittiwut, Chupong ; Ittiwut, Rungnapa ; Kuptanon, Chulaluck...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10716371/. , 2023

Link: http://www.ncbi.nlm.nih...

11

Abnormal pupillary light reflex with chromatic pupillometry..:

Narita, Aya ; Shirai, Kentarou ; Kubota, Norika...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...

12

A Study of Maternal Patients Diagnosed with Inborn Errors o..:

Takanori Onuki ; Shota Hiroshima ; Kentaro Sawano...
https://www.mdpi.com/2227-9067/10/8/1341. , 2023

Link: https://doi.org/10.3390/..

13

Genetic, metabolic and clinical delineation of an MRPS23-as..:

Chupong Ittiwut ; Rungnapa Ittiwut ; Chulaluck Kuptanon...
https://doi.org/10.1038/s41598-023-49161-7. , 2023

Link: https://doi.org/10.1038/..

14

Total and reduced/oxidized forms of coenzyme Q10 in fibrobl..:

Chika Watanabe ; Hitoshi Osaka ; Miyuki Watanabe...
http://www.sciencedirect.com/science/article/pii/S2214426922001112. , 2023

Link: https://doi.org/10.1016/..

15

A Study of Maternal Patients Diagnosed with Inborn Errors o..:

Takanori Onuki ; Shota Hiroshima ; Kentaro Sawano...
Pediatric Neonatology. , 2023

Link: https://doi.org/10.3390/..