E-LIB Suche - Ergebnisse für: Ushijima, Kikumi

1

Identification of the first promoter‐specific gain‐of‐funct..:

Ushijima, Kikumi ; Ogawa, Yuya ; Terao, Miho...
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1067-1075 , 2021

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

2

Copy‐number analysis of Y‐linked loci in young men with non..:

Suzuki, Erina ; Kobori, Yoshitomo ; Katsumi, Momori...
Reproductive Medicine and Biology. 19 (2020) 2 - p. 178-181 , 2020

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

3

Severe Hypernatremia in Combined Diabetic Ketoacidosis and ..:

Shima, Saho ; Umino, Satoko ; Kitamura, Miyuki..
Cureus. , 2020

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

4

KLF11variant in a family clinically diagnosed with early ch..:

Ushijima, Kikumi ; Narumi, Satoshi ; Ogata, Tsutomu...
Pediatric Diabetes. , 2019

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

5

A severely short-statured girl with 47,XX, + 14/46,XX,upd(1..:

Ushijima, Kikumi ; Yatsuga, Syuichi ; Matsumoto, Takako...
Journal of Human Genetics. 63 (2018) 3 - p. 377-381 , 2018

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

6

Comprehensive screening for monogenic diabetes in 89 Japane..:

Ushijima, Kikumi ; Fukami, Maki ; Ayabe, Tadayuki...
Pediatric Diabetes. 19 (2017) 2 - p. 243-250 , 2017

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

7

The first Japanese case of central precocious puberty with ..:

Nishioka, Junko ; Shima, Hirohito ; Fukami, Maki...
Human Genome Variation. 4 (2017) 1 - p. , 2017

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

8

l-Arginine intervention at hyper-acute phase protects the p..:

Kitamura, Miyuki ; Yatsuga, Shuichi ; Abe, Toshi...
Journal of Neurology. 263 (2016) 8 - p. 1666-1668 , 2016

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

9

Developmental delay and failure to thrive in a 7-month-old ..:

Yatsuga, Shuichi ; Saikusa, Tomoko ; Sasaki, Takako...
Journal of Medical Case Reports. 10 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

10

Urinary stone in a 12-year-old adolescent with new-onset ty..:

Ushijima-Fuchino, Kikumi ; Koga, Yuko ; Umino, Satoko...
Clinical Pediatric Endocrinology. 31 (2022) 3 - p. 199-204 , 2022

Link: https://doi.org/10.1297/..

11

Copy‐number analysis of Y‐linked loci in young men with non..:

Suzuki, Erina ; Kobori, Yoshitomo ; Katsumi, Momori...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138941/. , 2020

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

12

自己抗体陰性インスリン依存性1型糖尿病を有する日本人小児89例に対する単一遺伝子性糖尿病既知原因遺伝子の網羅的変異解析..:

牛嶋, 規久美 ; 1473 ; ウシジマ, キクミ.
28597946. , 2019

Link: https://kurume.repo.nii...

13

The first Japanese case of central precocious puberty with ..:

Nishioka, Junko ; Shima, Hirohito ; Fukami, Maki...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435957/. , 2017

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

14

Copy‐number analysis of Y‐linked loci in young men with non..:

Erina Suzuki ; Yoshitomo Kobori ; Momori Katsumi...
https://doi.org/10.1002/rmb2.12321. , 2020

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

15

Urinary stone in a 12-year-old adolescent with new-onset ty..:

Ushijima-Fuchino, Kikumi ; Koga, Yuko ; Umino, Satoko...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297177/. , 2022

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