Tomoko Lee

8PUBLICATIONS
16CO-AUTHORS
NeonatologyNeurology and neuromuscular diseasesCancer geneticsInfant and child healthMedical infection agents (incl. prions)
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Publications (8)

|Jun 25, 2026
A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.

|Oct 26, 2024
Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.

Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito

|May 27, 2023
A Pediatric Case of <i>COLQ</i>-Related Congenital Myasthenic Syndrome with Marked Fatigue.

Takuya Horibe, Hideki Shimomura, Sachi Tokunaga

|Mar 29, 2023
Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. <i>Genes</i> 2022, <i>13</i>, 2110.

Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio

|Nov 24, 2022
PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.

Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio

|Sep 28, 2021
Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.

Emma Tabe Eko Niba, Hiroyuki Awano, Tomoko Lee

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Frequent Collaborators

6 joint publications

Hiroyuki Awano

6 joint publications

Yasuhiro Takeshima

5 joint publications

Emma Tabe Eko Niba

4 joint publications

Hisahide Nishio