Marta Del Pozo-Valero
4PUBLICATIONS
20CO-AUTHORS
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Publications (4)
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|Mar 13, 2024
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly
|Mar 12, 2024
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey
|Jan 21, 2023
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero
|Aug 10, 2019
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero
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Frequent Collaborators
3 joint publications
Carmen Ayuso
2 joint publications
Pablo Mínguez
1 joint publications
Zeinab Fadaie
1 joint publications
Mubeen Khan
1 joint publications
Stéphanie S Cornelis
1 joint publications
Frans P M Cremers
1 joint publications
Susanne Roosing
1 joint publications
Irene Perea-Romero
1 joint publications
Marta Cortón
1 joint publications
Basamat Almoallem
