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A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.

artículo científico publicado en 2015

Clinical and molecular spectra of BRAF-associated RASopathy

artículo científico publicado en 2020

Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency

scientific article published on 02 June 2020

Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants

scientific article published on 25 May 2019

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