Maria Irene Valenzuela Palafoll

30PUBLICATIONS
210CO-AUTHORS
Infant and child healthNeurology and neuromuscular diseasesGene and molecular therapyDynamics, vibration and vibration controlStructural properties of condensed matter
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Publications (30)

|Sep 17, 2026
Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.

|Mar 30, 2026
Placental insufficiency markers to assess the risk of non-chromosomal genetic conditions in early-onset fetal growth restriction.

M Armengol-Alsina, E Bonacina, M Dalmau

|Mar 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Oct 01, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Liselot van der Laan, Karim Karimi, Kathleen Rooney

|Sep 17, 2025
De novo talin-1 variant L353F connects multifaceted clinical symptoms to alterations in talin-1 function.

Muktesh Athale, Neil Ball, Latifeh Azizi

|Jul 02, 2025
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Neftalí Vazquez, Chanjae Lee, Irene Valenzuela

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Frequent Collaborators

5 joint publications

Eduardo F Tizzano

3 joint publications

Janos Demeter

3 joint publications

Elisabeth Steichen

3 joint publications

Christiane Zweier