Concepedia

Uxia Esperón-Moldes

UE

3

Publications

34

Citations

3

H-Index

2018

Active since

Affiliations

Fundación Pública Galega de Medicina Xenómica(Current)

Servicio Gallego de Salud

University Hospital Complex Of Vigo

Universidade de Santiago de Compostela

Complejo Hospitalario Universitario de Santiago

Uxia Esperón-Moldes is an author at Fundación Pública Galega de Medicina Xenómica specializing in medicine, pathology, and genomics.

ORCID

Top concepts

Publications per year

2018–2020

3

Publications

3

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

Uxia Esperón-Moldes, Manuel Ginarte Val, L. Rodríguez‐Pazos et al. · PLoS ONE · 2020 · 14 citations · Full text

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Novel compound heterozygous <i><scp>FATP</scp>4</i> mutations caused ichthyosis prematurity syndrome in Spanish sisters

Uxia Esperón-Moldes, Manuel Ginarte, Marta Santamariña et al. · Acta Paediatrica · 2018 · 10 citations

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G &gt; A mutation in an isolated Ecuadorian population

Uxia Esperón-Moldes, Jacobo Pardo‐Seco, Martha Montalván‐Suárez et al. · Scientific Reports · 2019 · 10 citations · Full text

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