Concepedia

Ángeles García‐Cazorla

ÁG

28

Publications

1.7K

Citations

19

H-Index

2005

Active since

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Sant Joan de Déu Barcelona

Instituto de Salud Carlos III

Heidelberg University

University Hospital Heidelberg

Ángeles García‐Cazorla is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, pathology, and genetics.

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Publications per year

2005–2024

28

Publications

28

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 293 citations · Full text

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

Raquel Montero, Dèlia Yubero, Joan Villarroya et al. · PLoS ONE · 2016 · 172 citations · Full text

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Luís C. López, Hasan O. Akman, Ángeles García‐Cazorla et al. · Human Molecular Genetics · 2008 · 135 citations · Full text

Clinical and molecular genetic features of ARC syndrome

Paul Gissen, Louise Tee, Colin A. Johnson et al. · Human Genetics · 2006 · 127 citations

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Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

Hasan O. Akman, Beatriz Dorado, Luís C. López et al. · Human Molecular Genetics · 2008 · 119 citations · Full text

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