Eriko Nishi

11PUBLICATIONS
14CO-AUTHORS
NeurogeneticsDevelopmental genetics (incl. sex determination)Neurology and neuromuscular diseasesSpace sciences not elsewhere classifiedNeonatology
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Publications (11)

|May 16, 2026
Clinical and Genetic Findings in Two Japanese Individuals With SET-Related Neurodevelopmental Disorder.

|Feb 02, 2026
A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

Nobuhiko Okamoto, Eriko Nishi, Yuiko Hasegawa

|Jan 02, 2026
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.

Eriko Nishi, Kumiko Yanagi, Morimasa Shima

|Jun 23, 2025
A Clinical Study of Nine Patients With ReNU Syndrome.

Nobuhiko Okamoto, Eriko Nishi, Yuiko Hasegawa

|Oct 21, 2024
Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant.

Eriko Nishi, Kumiko Yanagi, Nobuhiko Okamoto

|Mar 28, 2024
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years.

Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada

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Frequent Collaborators

8 joint publications

Tadashi Kaname

3 joint publications

Kimiko Ueda

3 joint publications

Nobuhiko Okamoto

2 joint publications

Tomoko Uehara