Filtros de búsqueda

Lista de obras de

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

scientific article published on 14 November 2019

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome

artículo científico publicado en 2020

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

scientific article published on 13 February 2020

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

scientific article published on 27 January 2020

Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability

artículo científico publicado en 2021

matchbox: An open-source tool for patient matching via the Matchmaker Exchange

artículo científico publicado en 2018

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda