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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

artículo científico publicado en 2020

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

scientific article published on 31 May 2019

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

artículo científico publicado en 2015

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

artículo científico publicado en 2015

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

artículo científico publicado en 2010

Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature

scientific article published on 12 October 2020

Mutations in ECEL1 cause distal arthrogryposis type 5D

artículo científico publicado en 2012

Mutations in KCTD1 cause scalp-ear-nipple syndrome

artículo científico publicado en 2013

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

artículo científico publicado en 2014

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

scientific article published on 17 June 2019

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

artículo científico publicado en 2011

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