List of works by Jimena Barraza-García

A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

scientific article

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

scientific article published on 9 January 2017

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

scientific article

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

scientific article published on 29 June 2017

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

scientific article published on 16 September 2015

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