E-LIB Suche - Ergebnisse für: Ohba, Chihiro

1

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/..

2

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuol..:

Aoto, Kazushi ; Kato, Mitsuhiro ; Akita, Tenpei...
Nature Communications. 12 (2021) 1 - p. , 2021

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

3

Comprehensive analysis of coding variants highlights geneti..:

Takata, Atsushi ; Nakashima, Mitsuko ; Saitsu, Hirotomo...
Nature Communications. 10 (2019) 1 - p. , 2019

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

4

Identification of novel compound heterozygous mutations in ..:

Fukada, Masahide ; Yamada, Keitaro ; Eda, Shima...
Molecular Genetics & Genomic Medicine. 7 (2019) 7 - p. , 2019

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

5

Epileptic apnea in a patient with inherited glycosylphospha..:

Kohashi, Kosuke ; Ishiyama, Akihiko ; Yuasa, Shota...
Brain and Development. 40 (2018) 1 - p. 53-57 , 2018

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

6

De novo HDAC8 mutation causes Rett-related disorder with di..:

Saikusa, Tomoko ; Hara, Munetsugu ; Iwama, Kazuhiro...
Brain and Development. 40 (2018) 5 - p. 406-409 , 2018

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

7

Novel recessive mutations in MSTO1 cause cerebellar atrophy..:

Iwama, Kazuhiro ; Takaori, Toru ; Fukushima, Ai...
Journal of Human Genetics. 63 (2018) 3 - p. 263-270 , 2018

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

8

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/..

9

De novo mutations of the ATP6V1A gene cause developmental e..:

Fassio, Anna ; Esposito, Alessandro ; Kato, Mitsuhiro...
Brain. 141 (2018) 6 - p. 1703-1718 , 2018

Link: https://doi.org/10.1093/..

10

Neuroimaging findings in Joubert syndrome with C5orf42 gene..:

Enokizono, Mikako ; Aida, Noriko ; Niwa, Tetsu...
Journal of the Neurological Sciences. 376 (2017) - p. 7-12 , 2017

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

11

A novel mutation in the proteolytic domain of LONP1 causes ..:

Inui, Takehiko ; Anzai, Mai ; Takezawa, Yusuke...
Journal of Human Genetics. 62 (2017) 6 - p. 653-655 , 2017

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

12

The first genetically confirmed Japanese patient with mucol..:

Saijo, Harumi ; Hayashi, Masaharu ; Ezoe, Takanori...
Clinical Case Reports. 4 (2016) 5 - p. 509-512 , 2016

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

13

Impaired neuronal KCC2 function by biallelic SLC12A5 mutati..:

Saitsu, Hirotomo ; Watanabe, Miho ; Akita, Tenpei...
Scientific Reports. 6 (2016) 1 - p. , 2016

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

14

A female case of aromatic l-amino acid decarboxylase defici..:

Kojima, Karin ; Anzai, Rie ; Ohba, Chihiro...
Brain and Development. 38 (2016) 10 - p. 959-963 , 2016

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

15

Milder progressive cerebellar atrophy caused by biallelic S..:

Iwama, Kazuhiro ; Sasaki, Masayuki ; Hirabayashi, Shinichi...
Journal of Human Genetics. 61 (2016) 6 - p. 527-531 , 2016

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