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List of works by Kazushi Miya

A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features ⬇️

scientific article published on 04 July 2012

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease ⬇️

scientific article published on 07 June 2012

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

scientific article

MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene

scientific article

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