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A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation

artículo científico publicado en 2015

Characterization of adhesion and differentiation markers of osteogenic marrow stromal cells.

artículo científico publicado en 2005

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

scientific article published on 28 June 2018

Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.

artículo científico publicado en 2016

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

artículo científico publicado en 2017

Identification of novel candidate disease genes from de novo exonic copy number variants.

artículo científico publicado en 2017

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

artículo científico publicado en 2017

Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy

scientific article published on 16 August 2017

New Face for Chromatin-Related Mesenchymal Modulator: n-CHD9 Localizes to Nucleoli and Interacts With Ribosomal Genes

artículo científico publicado en 2015

Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing

artículo científico publicado en 2016

Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.

artículo científico publicado en 2016

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

artículo científico publicado en 2019

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

scientific article published on 03 June 2019

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