E-LIB Suche - Ergebnisse für: Enokizono, Takashi

1

A Case of Anorexia Nervosa with Focal Cortical Dysplasia:

Nemoto, Hiroki ; Imagawa, Kazuo ; Enokizono, Takashi...
Case Reports in Psychiatry. 2024 (2024) - p. 1-6 , 2024

Link: https://doi.org/10.1155/..

2

Identification of a novel splice‐site WWOX variant with pat..:

Nishino, Megumi ; Tanaka, Mai ; Imagawa, Kazuo...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

3

Boys with attention-deficit/hyperactivity disorder perform ..:

Enokizono, Takashi ; Ohto, Tatsuyuki ; Tanaka, Mai...
Brain and Development. 44 (2022) 3 - p. 189-195 , 2022

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

4

Variants in KIF2A cause broad clinical presentation; the co..:

Hatano, Maiko ; Fukushima, Hiroko ; Ohto, Tatsuyuki...
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1113-1119 , 2021

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

5

Novel ACOX1 mutations in two siblings with peroxisomal acyl..:

Morita, Atsushi ; Enokizono, Takashi ; Ohto, Tatsuyuki...
Brain and Development. 43 (2021) 3 - p. 475-481 , 2021

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

6

Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles:

Okamoto, Nobuhiko ; Ohto, Tatsuyuki ; Enokizono, Takashi...
Cells. 10 (2021) 11 - p. 3117 , 2021

Link: https://doi.org/10.3390/..

7

Novel ARX mutation identified in infantile spasm syndrome p..:

Takeshita, Yohei ; Ohto, Tatsuyuki ; Enokizono, Takashi...
Human Genome Variation. 7 (2020) 1 - p. , 2020

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

8

Association of Kabuki syndrome and tethered cord syndrome: ..:

Muroi, Ai ; Enokizono, Takashi ; Tsurubuchi, Takao...
Child's Nervous System. 37 (2020) 4 - p. 1339-1343 , 2020

Link: https://doi.org/10.1007/..

9

Quantitative assessment of fine motor skills in children us..:

Enokizono, Takashi ; Ohto, Tatsuyuki ; Tanaka, Mai...
Brain and Development. 42 (2020) 6 - p. 421-430 , 2020

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

10

A novel missense PTEN mutation identified in a patient with..:

Ueno, Yuichi ; Enokizono, Takashi ; Fukushima, Hiroko...
Human Genome Variation. 6 (2019) 1 - p. , 2019

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

11

A case of autism spectrum disorder with cleft lip and palat..:

Saeki, Saki ; Enokizono, Takashi ; Imagawa, Kazuo...
Clinical Case Reports. 7 (2019) 11 - p. 2059-2063 , 2019

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

12

A patient with peripheral demyelinating neuropathy, central..:

Akutsu, Yuko ; Shirai, Kentaro ; Takei, Akira...
American Journal of Medical Genetics Part A. 176 (2018) 5 - p. 1195-1199 , 2018

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

13

Schuurs‐Hoeijmakers syndrome in two patients from Japan:

Hoshino, Yusuke ; Enokizono, Takashi ; Imagawa, Kazuo...
American Journal of Medical Genetics Part A. 179 (2018) 3 - p. 341-343 , 2018

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

14

Exonic deletions in GALC are frequent in Japanese globoid-c..:

Irahara-Miyana, Kaori ; Enokizono, Takashi ; Ozono, Keiichi.
Human Genome Variation. 5 (2018) 1 - p. , 2018

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

15

A novel BBS10 mutation identified in a patient with Bardet–..:

Ohto, Tatsuyuki ; Enokizono, Takashi ; Tanaka, Ryuta...
Human Genome Variation. 4 (2017) 1 - p. , 2017

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