Beatriz Martinez-Delgado

22PUBLICATIONS
103CO-AUTHORS
Medical biochemistry - amino acids and metabolitesEpidemiological modellingGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Psycholinguistics (incl. speech production and comprehension)
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Publications (22)

|Sep 20, 2026
A Variant in Abhydrolase Domain Containing 14A (ABHD14A) and the Suspicion of Aminoacylase 1 (ACY1) Deficiency.

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|Sep 09, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

|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

|Dec 11, 2023
Plasma levels of α1-antitrypsin-derived C-terminal peptides in PiMM and PiZZ COPD patients.

Friedemann R Börner, Urszula Lechowicz, Sabine Wrenger

|Aug 26, 2023
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.

Gema Gomez-Mariano, Sara Perez-Luz, Sheila Ramos-Del Saz

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Frequent Collaborators

7 joint publications

Estrella López-Martín

5 joint publications

Manuel Posada de la Paz

5 joint publications

Maria Jose Barrero

3 joint publications

Eva Bermejo-Sánchez