Antonia Kappen
3PUBLICATIONS
9CO-AUTHORS
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Publications (3)
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|Dec 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.Sofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque
|Sep 05, 2020
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.Sofia Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida
|Aug 23, 2019
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.Sofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges
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Frequent Collaborators
3 joint publications
Richard Rodenburg
3 joint publications
María-Luz Couce
2 joint publications
Filipa Borges
2 joint publications
Sofia Barbosa-Gouveia
1 joint publications
Maria E Vázquez-Mosquera
1 joint publications
Álvaro Hermida-Ameijeiras
1 joint publications
Laura L Valverde
1 joint publications
Judith Armstrong-Moron
1 joint publications
Liesbeth T Wintjes
