E-LIB Suche - Ergebnisse für: Seto, Toshiyuki

1

Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant..:

Hashimoto, Kosuke ; Miwa, Toru ; Ono, Chie...
Cureus. , 2024

2

Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linke..:

Uedono, Hideki ; Mori, Katsuhito ; Nakatani, Shinya...
Case Reports in Nephrology and Dialysis. 14 (2024) 1 - p. 1-9 , 2024

Link: https://doi.org/10.1159/..

3

Potential Usefulness of Lifetime Globotriaosylsphingosine E..:

Hotta, Junko ; Jogu, Yukiko ; Bamba, Haruka...
Cureus. , 2024

Link: https://doi.org/10.7759/..

4

Oculofaciocardiodental syndrome caused by a novel BCOR vari..:

Yamashita, Tomoyo ; Hotta, Junko ; Jogu, Yukiko...
Human Genome Variation. 10 (2023) 1 - p. , 2023

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

5

Effect of Donor NKG2D Polymorphism on Relapse after Haploid..:

Ido, Kentaro ; Koh, Hideo ; Hirose, Asao...
Transplantation and Cellular Therapy. 28 (2022) 1 - p. 20.e1-20.e10 , 2022

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

6

Genome Analysis in Sick Neonates and Infants: High-yield Ph..:

Suzuki, Hisato ; Nozaki, Masatoshi ; Yoshihashi, Hiroshi...
The Journal of Pediatrics. 244 (2022) - p. 38-48.e1 , 2022

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

7

Possible critical region associated with late‐onset spasms ..:

Yamamoto, Naohiro ; Okazaki, Shin ; Kuki, Ichiro...
Epileptic Disorders. 24 (2022) 3 - p. 567-571 , 2022

Link: https://doi.org/10.1684/..

8

Plasma Globotriaosylsphingosine and α-Galactosidase A Activ..:

Maruyama, Hiroki ; Taguchi, Atsumi ; Mikame, Mariko...
Current Issues in Molecular Biology. 43 (2021) 1 - p. 389-404 , 2021

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

9

Real world long-term outcomes in patients with mucopolysacc..:

Tomita, Kazuyoshi ; Okamoto, Shungo ; Seto, Toshiyuki.
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100816 , 2021

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

10

Divergent developmental trajectories in two siblings with n..:

Tomita, Kazuyoshi ; Okamoto, Shungo ; Seto, Toshiyuki...
JIMD Reports. 62 (2021) 1 - p. 9-14 , 2021

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

11

Narrowing down the region responsible for 1q23.3q24.1 micro..:

Hoshina, Takao ; Seto, Toshiyuki ; Shimono, Taro...
Human Genome Variation. 6 (2019) 1 - p. , 2019

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

12

Autophagy in the Central Nervous System and Effects of Chlo..:

Maeda, Mitsuyo ; Seto, Toshiyuki ; Kadono, Chiho...
International Journal of Molecular Sciences. 20 (2019) 23 - p. 5829 , 2019

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

13

Genomic backgrounds of Japanese patients with undiagnosed n..:

Yamamoto, Toshiyuki ; Imaizumi, Taichi ; Yamamoto-Shimojima, Keiko...
Brain and Development. 41 (2019) 9 - p. 776-782 , 2019

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

14

Case of hand, foot and mouth disease with vesicular Koebner..:

Shiratori, Miyu ; Fukai, Kazuyoshi ; Hikita, Norikatsu..
The Journal of Dermatology. 46 (2018) 6 - p. , 2018

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

15

A novel COL1A1 mutation in a family with osteogenesis imper..:

Seto, Toshiyuki ; Yamamoto, Toshiyuki ; Shimojima, Keiko.
Human Genome Variation. 4 (2017) 1 - p. , 2017

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