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List of works by Francisco J Guzmán-Vega

Applications in computational structural biology: the generation of a protein modelling pipeline and the structural analysis of patient-derived mutations

thesis

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

scientific article published in July 2018

Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia

scientific article published on 16 April 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

scientific article published on 03 August 2021

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

Rapid Evolution of Plastic-degrading Enzymes Prevalent in the Global Ocean

scientific article

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

scientific article published on 10 April 2019

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