E-LIB Suche - Ergebnisse für: Shimada, Shino

1

A case report of hydrocephalus due to diffuse villous hyper..:

Nakajima, Shintaro ; Murofushi, Keisuke ; Matsuda, Shinpei...
Child's Nervous System. 39 (2023) 8 - p. 2045-2051 , 2023

2

Functional analysis of a de novo variant in the neurodevelo..:

Boulin, Thomas ; Itani, Omar ; El Mouridi, Sonia...
Molecular Genetics and Metabolism. 134 (2021) 1-2 - p. 195-202 , 2021

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

3

Mutations in GET4 disrupt the transmembrane domain recognit..:

Tambe, Mitali A. ; Ng, Bobby G. ; Shimada, Shino...
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 1037-1045 , 2020

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

4

Mutations in GET4 disrupt the transmembrane domain recognit..:

Tambe, Mitali A. ; Ng, Bobby G. ; Shimada, Shino...
The FASEB Journal. 34 (2020) S1 - p. 1-1 , 2020

Link: https://doi.org/10.1096/..

5

PRRT2 mutations in Japanese patients with benign infantile ..:

Okumura, Akihisa ; Shimojima, Keiko ; Kurahashi, Hirokazu...
Seizure. 71 (2019) - p. 1-5 , 2019

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

6

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/..

7

Novel compound heterozygous EPG5 mutations consisted with a..:

Shimada, Shino ; Hirasawa, Kyoko ; Takeshita, Akiko...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2803-2807 , 2018

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

8

An episode of acute encephalopathy with biphasic seizures a..:

Shimada, Shino ; Oguni, Hirokazu ; Otani, Yui...
Brain and Development. 40 (2018) 9 - p. 813-818 , 2018

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

9

The first Japanese case of leukodystrophy with ovarian fail..:

Hamatani, Mio ; Jingami, Naoto ; Tsurusaki, Yoshinori...
Journal of Human Genetics. 61 (2016) 10 - p. 899-902 , 2016

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

10

Novel compound heterozygous LIAS mutations cause glycine en..:

Tsurusaki, Yoshinori ; Tanaka, Ryuta ; Shimada, Shino...
Journal of Human Genetics. 60 (2015) 10 - p. 631-635 , 2015

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

11

Three patients manifesting early infantile epileptic spasms..:

Yoshitomi, Shinsaku ; Takahashi, Yukitoshi ; Ishizuka, Mamiko...
Brain and Development. 37 (2015) 9 - p. 874-879 , 2015

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

12

Megalencephalic leukoencephalopathy with subcortical cysts ..:

Masuda, Teruaki ; Ueda, Mitsuharu ; Ueyama, Hidetsugu...
Journal of the Neurological Sciences. 351 (2015) 1-2 - p. 211-213 , 2015

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

13

Microarray analysis of 50 patients reveals the critical chr..:

Shimada, Shino ; Shimojima, Keiko ; Okamoto, Nobuhiko...
Brain and Development. 37 (2015) 5 - p. 515-526 , 2015

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

14

Mutations in the genes encoding eukaryotic translation init..:

Shimada, Shino ; Shimojima, Keiko ; Sangu, Noriko...
Brain and Development. 37 (2015) 10 - p. 960-966 , 2015

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

15

Leukoencephalopathy associated with 11q24 deletion involvin..:

Yamamoto, Toshiyuki ; Shimada, Shino ; Shimojima, Keiko...
European Journal of Medical Genetics. 58 (2015) 9 - p. 492-496 , 2015

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