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List of works by Rika Kosaki

Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms

scientific article published on 03 December 2017

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes

scientific article published on 05 May 2020

Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype.

scientific article published on 20 November 2013

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

scientific article published on 22 June 2017

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval

scientific article published on 07 May 2018

Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2

scientific article published on 26 March 2022

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