E-LIB Suche - Ergebnisse für: Makita, Yoshio

1

ATP1A3 potentially causes hereditary spastic paraplegia: A ..:

Okano, Satomi ; Makita, Yoshio ; Ueda, Yuki...
Brain and Development Case Reports. 2 (2024) 2 - p. 100016 , 2024

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

2

Genomic insights into familial adenomatous polyposis: unrav..:

Tanabe, Hiroki ; Ijiri, Masami ; Takahashi, Kenji...
Human Genome Variation. 11 (2024) 1 - p. , 2024

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

3

Clinical characteristics of muscle cramps in hereditary ang..:

Haga, Shunsuke ; Takeguchi, Ryo ; Tanaka, Ryosuke...
Brain and Development. 45 (2023) 7 - p. 390-394 , 2023

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

4

GRIA3 p.Met661Thr variant in a female with developmental ep..:

Okano, Satomi ; Makita, Yoshio ; Miyamoto, Akie...
Human Genome Variation. 10 (2023) 1 - p. , 2023

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

5

A novel HECW2 variant in an infant with congenital long QT ..:

Imanishi, Rina ; Nakau, Kouichi ; Shimada, Sorachi...
Human Genome Variation. 10 (2023) 1 - p. , 2023

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

6

Wisconsin syndrome with brain volume laterality: a case rep..:

Okano, Satomi ; Makita, Yoshio ; Kimura, Kayano...
Journal of Medical Case Reports. 16 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

7

MCAD deficiency caused by compound heterozygous pathogenic ..:

Nohara, Fumikatsu ; Tajima, Go ; Sasai, Hideo.
Human Genome Variation. 9 (2022) 1 - p. , 2022

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

8

Novel NARS2 variant causing leigh syndrome with normal lact..:

Tanaka, Ryosuke ; Takeguchi, Ryo ; Kuroda, Mami...
Human Genome Variation. 9 (2022) 1 - p. , 2022

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

9

Passive Radio Imaging of Hybrid Radar System for Security I..:

, In: 2020 17th European Radar Conference (EuRAD),

Yonemoto, Naruto ; Kohmura, Akiko ; Futatsumori, Shunichi.. - p. 378-381 , 2021

Link: https://doi.org/10.1109/..

10

Case Report: A Rare Case of Esophagogastric Junctional Squa..:

Sato, Hiroki ; Saito, Takeshi ; Horii, Hiroshi...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

11

Biallelic SZT2 variants in a child with developmental and e..:

Tanaka, Ryosuke ; Takahashi, Satoru ; Kuroda, Mami...
Epileptic Disorders. 22 (2020) 4 - p. 501-505 , 2020

Link: https://doi.org/10.1684/..

12

Relapsing 6q24-related transient neonatal diabetes mellitus..:

Uchida, Noboru ; Ohnishi, Takuma ; Kojima, Takuro...
Clinical Pediatric Endocrinology. 29 (2020) 4 - p. 179-182 , 2020

Link: https://doi.org/10.1297/..

13

Severe gastrointestinal symptoms caused by a novel DDX3X va..:

Okano, Satomi ; Miyamoto, Akie ; Makita, Yoshio...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104058 , 2020

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

14

NT5E Genetic Mutation Is a Rare But Important Cause of Inte..:

Azuma, Nobuyoshi ; Uchida, Tetsuro ; Kikuchi, Shinsuke...
Circulation Journal. 84 (2020) 7 - p. 1183-1188 , 2020

Link: https://doi.org/10.1253/..

15

Novel compound heterozygous CDH23 variants in a patient wit..:

Okano, Satomi ; Makita, Yoshio ; Katada, Akihiro...
Human Genome Variation. 6 (2019) 1 - p. , 2019

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