Sheila Ramos-Del Saz

3PUBLICATIONS
38CO-AUTHORS
Epidemiological modellingMedical biochemistry - lipidsElemental semiconductors
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Publications (3)

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

|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

|Aug 12, 2023
Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.

Sara Pérez-Luz, Jaanam Lalchandani, Nerea Matamala

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Frequent Collaborators

3 joint publications

Beatriz Martinez-Delgado

2 joint publications

Sara Pérez-Luz

2 joint publications

Maria Jose Barrero

2 joint publications

Esther Hernandez-SanMiguel