List of works - Rebecca D Ganetzky - Paulina

List of works by Rebecca D Ganetzky

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

scientific article published on 4 June 2015

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas

scientific article published on 30 November 2020

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

scientific article published on 04 March 2019

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation

scientific article published on 13 April 2019

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