E-LIB Suche - Ergebnisse für: Katata, Yu

1

A case of long-term survival of SADDAN treated with growth ..:

Kanno, Junko ; Katata, Yu ; Kawashima, Sayaka...
Clinical Pediatric Endocrinology. , 2024

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

2

Long‐term clinical observation of patients with heterozygou..:

Kawashima, Aritomo ; Kodama, Kaori ; Okubo, Yukimune...
American Journal of Medical Genetics Part A. , 2024

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

3

A Case Series of Patients With MYBPC1 Gene Variants Featuri..:

Uneoka, Saki ; Kobayashi, Tomoko ; Numata-Uematsu, Yurika...
Pediatric Neurology. 146 (2023) - p. 16-20 , 2023

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

4

Two types of early epileptic encephalopathy in a Pitt-Hopki..:

Kirikae, Hinako ; Uematsu, Mitsugu ; Numata-Uematsu, Yurika...
Brain and Development. 44 (2022) 2 - p. 148-152 , 2022

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

5

A novel variant in the transmembrane 4 domain of ANO3 ident..:

Aihara, Yu ; Shirota, Matsuyuki ; Kikuchi, Atsuo...
Journal of Human Genetics. 68 (2022) 1 - p. 51-54 , 2022

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

6

Trapping of CDC42 C-terminal variants in the Golgi drives p..:

Nishitani-Isa, Masahiko ; Mukai, Kojiro ; Honda, Yoshitaka...
Journal of Experimental Medicine. 219 (2022) 6 - p. , 2022

Link: https://doi.org/10.1084/..

7

Leigh syndrome-like MRI changes in a patient with biallelic..:

Numata-Uematsu, Yurika ; Uematsu, Mitsugu ; Yamamoto, Toshiyuki...
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100800 , 2021

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

8

The longest reported sibling survivors of a severe form of ..:

Katata, Yu ; Uneoka, Saki ; Saijyo, Naoya...
American Journal of Medical Genetics Part A. 188 (2021) 4 - p. 1293-1298 , 2021

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

9

Costello syndrome model mice with a Hras G12S mutation are ..:

Katata, Yu ; Inoue, Shin-ichi ; Asao, Atsuko...
Cell Death & Disease. 11 (2020) 8 - p. , 2020

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

10

Novel missense mutation in CLN8 in late infantile neuronal ..:

Katata, Yu ; Uematsu, Mitsugu ; Sato, Hiroki...
Brain and Development. 38 (2016) 3 - p. 341-345 , 2016

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

11

Perinatal Coxsackievirus B3 Infection with Transient Thromb..:

Kaga, Akimune ; Katata, Yu ; Suzuki, Akira...
The Tohoku Journal of Experimental Medicine. 239 (2016) 2 - p. 135-138 , 2016

Link: https://doi.org/10.1620/..

12

Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome character..:

Watanabe, Yuko ; Shido, Kosuke ; Niihori, Tetsuya...
American Journal of Medical Genetics Part A. 170 (2015) 1 - p. 189-194 , 2015

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

13

A Case of Acute Cerebellitis With a Unique Sequential Chang..:

Suzuki, Saeko ; Kaga, Akimune ; Kusaka, Natsuko...
Pediatric Neurology. 51 (2014) 2 - p. 279-281 , 2014

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

14

Spontaneous Cholesterol Crystal Embolism in Patients with C..:

Katata, Yu ; Ogata, Tsuyoshi ; Fujita, Hiroshi...
Journal of Cardiac Failure. 18 (2012) 10 - p. S170 , 2012

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

15

Trapping of CDC42 C-terminal variants in the Golgi drives p..:

Nishitani-Isa, Masahiko ; Mukai, Kojiro ; Honda, Yoshitaka...
10.1084/jem.20211889. , 2022

Link: http://hdl.handle.net/24..