E-LIB Suche - Ergebnisse für: Koshimizu, Satoko

1

Formation of reactive oxygen species by irradiation of cold..:

Anzai, Kazunori ; Aoki, Tamami ; Koshimizu, Satoko...
Journal of Clinical Biochemistry and Nutrition. 64 (2019) 3 - p. 187-193 , 2019

Link: https://doi.org/10.3164/..

2

Formation of reactive oxygen species by the irradiation of ..:

Anzai, Kazunori ; Aoki, Tamami ; Koshimizu, Satoko...
Free Radical Biology and Medicine. 120 (2018) - p. S64 , 2018

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

3

A case of Bloom syndrome manifesting with therapy-related m..:

Ohashi, Takuma ; Kunimoto, Hiroyoshi ; Nukui, Jun...
International Journal of Hematology. 119 (2024) 5 - p. 603-607 , 2024

Link: https://doi.org/10.1007/..

4

Complex chromosomal 6q rearrangements revealed by combined ..:

Ohori, Sachiko ; Numabe, Hironao ; Mitsuhashi, Satomi...
Genomics. 116 (2024) 5 - p. 110894 , 2024

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

5

Detection of hidden intronic DDC variant in aromatic L-amin..:

Koshimizu, Eriko ; Kato, Mitsuhiro ; Misawa, Kazuharu...
Journal of Human Genetics. , 2024

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

6

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a..:

Inoue, Yuta ; Tsuchida, Naomi ; Kim, Chong Ae...
Journal of Human Genetics. , 2024

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

7

FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion i..:

Matsushima, Masaaki ; Yaguchi, Hiroaki ; Koshimizu, Eriko...
Journal of Neurology. 271 (2024) 6 - p. 3643-3647 , 2024

Link: https://doi.org/10.1007/..

8

A family with neuronal intranuclear inclusion disease with ..:

Watanabe, Kazuki ; Bunai, Tomoyasu ; Sakamoto, Masamune...
Journal of Neurology. , 2024

Link: https://doi.org/10.1007/..

9

Biallelic null variants in PNPLA8 cause microcephaly by red..:

Nakamura, Yuji ; Shimada, Issei S ; Maroofian, Reza...
Brain. , 2024

Link: https://doi.org/10.1093/..

10

Distal arthrogryposis in a girl arising from a novel TNNI2 ..:

Seyama, Rie ; Uchiyama, Yuri ; Kaneshi, Yosuke...
Journal of Human Genetics. 68 (2023) 5 - p. 363-367 , 2023

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

11

Long-read sequencing revealing intragenic deletions in exom..:

Fukuda, Hiromi ; Mizuguchi, Takeshi ; Doi, Hiroshi...
Journal of Human Genetics. 68 (2023) 10 - p. 689-697 , 2023

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

12

Novel missense variants cause intermediate phenotypes in th..:

Utsuno, Yasuhiro ; Hamada, Keisuke ; Hamanaka, Kohei...
Journal of Human Genetics. 69 (2023) 2 - p. 69-77 , 2023

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

13

Detection of Modified Histones from Oral Mucosa of a Patien..:

Sugeno, Naoto ; Hasegawa, Takafumi ; Haginoya, Kazuhiro...
Molecular Syndromology. 14 (2023) 6 - p. 461-468 , 2023

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

14

RNA Foci in Two bi‐Allelic RFC1 Expansion Carriers:

Wada, Taishi ; Doi, Hiroshi ; Okubo, Masaki...
Annals of Neurology. 95 (2023) 3 - p. 607-613 , 2023

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

15

A novel NONO variant that causes developmental delay and ca..:

Itai, Toshiyuki ; Sugie, Atsushi ; Nitta, Yohei...
Scientific Reports. 13 (2023) 1 - p. , 2023

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