Eva Bermejo-Sánchez
7PUBLICATIONS
23CO-AUTHORS
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Publications (7)
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|Apr 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.Amélie Cordovado, Yvan Hérenger, Coline Cormier
|Aug 26, 2022
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.Beatriz Baladron, Lidia M Mielu, Estrella López-Martín
|Jun 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.Fatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert
|Sep 25, 2019
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.Adrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu
|Sep 20, 2018
Value of sharing and networking among birth defects surveillance programs: an ICBDSR perspective.Eva Bermejo-Sánchez, Lorenzo D Botto, Marcia L Feldkamp
|Aug 17, 2018
SpainUDP: The Spanish Undiagnosed Rare Diseases Program.Estrella López-Martín, Beatriz Martínez-Delgado, Eva Bermejo-Sánchez
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Frequent Collaborators
3 joint publications
Manuel Posada de la Paz
3 joint publications
Estrella López-Martín
3 joint publications
Beatriz Martínez-Delgado
2 joint publications
Marie-Laure Vuillaume
2 joint publications
Maria J Barrero
1 joint publications
Verónica Alonso-Ferreira
1 joint publications
Víctor L Ruiz-Pérez
1 joint publications
Isolina Riaño-Galán
1 joint publications
Martin Zenker
1 joint publications
Javier Alonso
