Rika Kosaki

7PUBLICATIONS
14CO-AUTHORS
Indian languagesNeonatologyNanomedicineOptical technologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (7)

|May 12, 2026
Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases.

|Aug 09, 2022
Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome.

Tadashi Shiohama, Katsunori Fujii, Rika Kosaki

|Mar 26, 2022
Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.

Kaori Maruwaka, Yoko Nakajima, Takaharu Yamada

|Dec 06, 2021
Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6.

Toru Saito, Ken Okamura, Rika Kosaki

|May 06, 2020
Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes.

Rika Kosaki, Masaya Kubota, Tomoko Uehara

|May 09, 2018
Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.

Rika Kosaki, Hiroshi Ono, Hiroshi Terashima

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Frequent Collaborators

1 joint publications

Tomoko Uehara

1 joint publications

Hisato Suzuki

1 joint publications

Toshiki Takenouchi

1 joint publications

Kenjiro Kosaki