E-LIB Suche - Ergebnisse für: Mushimoto, Yuichi

1

High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically D..:

Tocan, Vlad ; Nakamura-Utsunomiya, Akari ; Sonoda, Yuri...
International Journal of Molecular Sciences. 25 (2024) 5 - p. 2820 , 2024

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

2

Genotype–Phenotype Correlations in 30 Japanese Patients Wit..:

Tanase-Nakao, Kanako ; Iwahashi-Odano, Megumi ; Sugisawa, Chiho...
The Journal of Clinical Endocrinology & Metabolism. , 2024

Link: https://doi.org/10.1210/..

3

Rapid and long‐lasting efficacy of high‐dose ambroxol thera..:

Higashi, Kanako ; Sonoda, Yuri ; Kaku, Noriyuki...
Molecular Genetics & Genomic Medicine. 12 (2024) 4 - p. , 2024

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

4

Guidelines for Newborn Screening of Congenital Hypothyroidi..:

Nagasaki, Keisuke ; Minamitani, Kanshi ; Nakamura, Akie...
Clinical Pediatric Endocrinology. 32 (2023) 1 - p. 26-51 , 2023

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

5

Critical diseases in neonates after discharge home from bir..:

Fujiyoshi, Junko ; Inoue, Hirosuke ; Sawano, Toru...
Early Human Development. 186 (2023) - p. 105869 , 2023

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

6

Clinical and molecular investigation of 37 Japanese patient..:

Yamada, Kenji ; Osawa, Yoshimitsu ; Kobayashi, Hironori...
Molecular Genetics and Metabolism Reports. 33 (2022) - p. 100940 , 2022

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

7

Anesthesia management in living-donor liver transplantation..:

Matsushita, Hiroki ; Fujiyoshi, Tetsushiro ; Yoshimaru, Koichiro...
JA Clinical Reports. 8 (2022) 1 - p. , 2022

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

8

The earliest enzyme replacement for infantile‐onset Pompe d..:

Tocan, Vlad ; Mushimoto, Yuichi ; Kojima‐Ishii, Kanako...
Pediatrics International. 64 (2022) 1 - p. , 2022

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

9

A case report with functional characterization of aHNF1B mu..:

Yoshida, Kei ; Mushimoto, Yuichi ; Tanase-Nakao, Kanako...
Clinical Pediatric Endocrinology. 30 (2021) 4 - p. 179-185 , 2021

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

10

Physical, cognitive, and social status of patients with ure..:

Kido, Jun ; Matsumoto, Shirou ; Ito, Tetsuya...
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100724 , 2021

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

11

Fully Automated Quantitative Measurement of Serum Organic A..:

Ueyanagi, Yasushi ; Setoyama, Daiki ; Kawakami, Daisuke...
Diagnostics. 11 (2021) 12 - p. 2195 , 2021

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

12

Brain-sparing cord blood transplantation for the borderline..:

Yada, Yutaro ; Torio, Michiko ; Koga, Yuhki...
Molecular Genetics and Metabolism Reports. 28 (2021) - p. 100778 , 2021

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

13

BCS1L mutations produce Fanconi syndrome with developmental..:

Kanako, Kojima-Ishii ; Sakakibara, Nana ; Murayama, Kei...
Journal of Human Genetics. 67 (2021) 3 - p. 143-148 , 2021

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

14

The expanding phenotype of hypokalemic periodic paralysis i..:

Kurokawa, Mari ; Torio, Michiko ; Ohkubo, Kazuhiro...
Molecular Genetics & Genomic Medicine. 8 (2020) 4 - p. , 2020

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

15

Clinical course in a patient with myopathic VLCAD deficienc..:

Yamada, Kenji ; Matsubara, Keiichi ; Matsubara, Yuko...
JIMD Reports. 49 (2019) 1 - p. 17-20 , 2019

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