E-LIB Suche - Ergebnisse für: Matsufuji, Mayumi

1

Association between cerebrospinal fluid parameters and deve..:

Nabatame, Shin ; Tanigawa, Junpei ; Tominaga, Koji...
Journal of the Neurological Sciences. 447 (2023) - p. 120597 , 2023

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

2

A de novo U2AF2 heterozygous variant associated with hypomy..:

Kuroda, Yukiko ; Matsufuji, Mayumi ; Enomoto, Yumi...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2245-2248 , 2023

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

3

Comprehensive genetic analysis confers high diagnostic yiel..:

Miyamoto, Sachiko ; Kato, Mitsuhiro ; Hiraide, Takuya...
Journal of Human Genetics. 66 (2021) 11 - p. 1061-1068 , 2021

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

4

Sodium phenylbutyrate improved the clinical state in an adu..:

Matsufuji, Mayumi ; Takeshita, Eiko ; Nakashima, Masayuki...
Brain and Development. 42 (2020) 2 - p. 231-235 , 2020

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

5

A novel STXBP1 mutation causes typical Rett syndrome in a J..:

Yuge, Kotaro ; Iwama, Kazuhiro ; Yonee, Chihiro...
Brain and Development. 40 (2018) 6 - p. 493-497 , 2018

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

6

Neuroimaging and neuropathological characteristics of cereb..:

Matsufuji, Mayumi ; Sano, Nozomi ; Tsuru, Hisashi.
Brain and Development. 39 (2017) 9 - p. 735-742 , 2017

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

7

Aspartylglucosaminuria caused by a novel homozygous mutatio..:

Yamamoto, Toshiyuki ; Shimojima, Keiko ; Matsufuji, Mayumi...
Brain and Development. 39 (2017) 5 - p. 422-425 , 2017

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

8

Concurrent occurrence of an inherited 16p13.11 microduplica..:

Shimojima, Keiko ; Ondo, Yumiko ; Matsufuji, Mayumi...
European Journal of Medical Genetics. 59 (2016) 11 - p. 559-563 , 2016

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

9

Phase-locked theta activity evoked in patients with severe ..:

Tamura, Kaori ; Karube, Chihiro ; Mizuba, Takaaki...
Brain and Development. 37 (2015) 8 - p. 764-772 , 2015

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

10

Early onset epileptic encephalopathy caused by de novo SCN8..:

Ohba, Chihiro ; Kato, Mitsuhiro ; Takahashi, Satoru...
Epilepsia. 55 (2014) 7 - p. 994-1000 , 2014

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

11

Partial PLP1 Deletion Causing X-Linked Dominant Spastic Par..:

Matsufuji, Mayumi ; Osaka, Hitoshi ; Gotoh, Leo...
Pediatric Neurology. 49 (2013) 6 - p. 477-481 , 2013

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

12

Magnetic resonance imaging volumetry and clinical analysis ..:

Matsufuji, Mayumi ; Utsunomiya, Hidetsuna ; Inoue, Takahito...
Pediatrics International. 54 (2012) 1 - p. 19-26 , 2012

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

13

A long-term survival case of arginase deficiency with sever..:

Segawa, Yoshie ; Matsufuji, Mayumi ; Itokazu, Naoya...
Brain and Development. 33 (2011) 1 - p. 45-48 , 2011

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

14

Potassium bromate treatment predominantly causes large dele..:

Luan, Yang ; Suzuki, Takayoshi ; Palanisamy, Rajaguru...
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 619 (2007) 1-2 - p. 113-123 , 2007

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

15

Genotoxicity of acrylamide and glycidamide in human lymphob..:

Koyama, Naoki ; Sakamoto, Hiroko ; Sakuraba, Mayumi...
Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 603 (2006) 2 - p. 151-158 , 2006

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