E-LIB Suche - Ergebnisse für: Aiba, Kaori

1

Novel SLC30A2 mutations in the pathogenesis of transient ne..:

Muto, Taichiro ; Kawase, Yuriko ; Aiba, Kaori...
Pediatric Investigation. 7 (2023) 1 - p. 6-12 , 2023

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

2

A case of ATR-X syndrome with mitochondrial respiratory cha..:

Aiba, Kaori ; Nakamura, Yuji ; Sugimoto, Mari...
European Journal of Medical Genetics. 64 (2021) 8 - p. 104251 , 2021

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

3

Clinical and molecular genetic characterization of two fema..:

Katoh, Kimiko ; Aiba, Kaori ; Fukushi, Daisuke...
Human Mutation. 41 (2020) 8 - p. 1447-1460 , 2020

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

4

Nusinersen helps restore walking ability in childhood spina..:

Sugimoto, Mari ; Aiba, Kaori ; Koyama, Norihisa..
Pediatrics International. 61 (2019) 7 - p. 728-729 , 2019

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

5

De novo variants in CAMK2A and CAMK2B cause neurodevelopmen..:

Akita, Tenpei ; Aoto, Kazushi ; Kato, Mitsuhiro...
Annals of Clinical and Translational Neurology. 5 (2018) 3 - p. 280-296 , 2018

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

6

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/..

7

Spinocerebellar ataxias type 27 derived from a disruption o..:

Shimojima, Keiko ; Okumura, Akihisa ; Natsume, Jun...
Brain and Development. 34 (2012) 3 - p. 230-233 , 2012

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

8

Novel SLC30A2 mutations in the pathogenesis of transient ne..:

Muto, Taichiro ; Kawase, Yuriko ; Aiba, Kaori...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10030689/. , 2023

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

9

Novel SLC30A2 mutations in the pathogenesis of transient ne..:

Muto, Taichiro ; Kawase, Yuriko ; Aiba, Kaori...
10.1002/ped4.12366. , 2023

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

10

De novo variants in CAMK2A and CAMK2B cause neurodevelopmen..:

Akita, Tenpei ; Aoto, Kazushi ; Kato, Mitsuhiro...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846454/. , 2018

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

11

Novel SLC30A2 mutations in the pathogenesis of transient ne..:

Taichiro Muto ; Yuriko Kawase ; Kaori Aiba...
https://doi.org/10.1002/ped4.12366. , 2023

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

12

Comprehensive analysis of coding variants highlights geneti..:

Atsushi Takata ; Mitsuko Nakashima ; Hirotomo Saitsu...
https://doi.org/10.1038/s41467-019-10482-9. , 2019

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

13

Brain Diseases and Fall-Related Surgery in Older Persons:

Sakakibara, Ryuji ; Iimura, Ayako ; Ogata, Tsuyoshi...
European Neurology. 85 (2022) 4 - p. 260-264 , 2022

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

14

Brain diseases and aspiration pneumonia in older person:

Sakakibara, Ryuji ; Iimura, Ayako ; Ogata, Tsuyoshi...
Neurology and Clinical Neuroscience. 10 (2021) 1 - p. 9-13 , 2021

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

15

Losartan attenuates the coronary perivasculitis through its..:

Suganuma, Eisuke ; Niimura, Fumio ; Matsuda, Shinichi...
Pediatric Research. 81 (2016) 4 - p. 593-600 , 2016

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