Maria Irene Valenzuela Palafoll

32PUBLICATIONS
244CO-AUTHORS
Medical infection agents (incl. prions)NeurogeneticsInfant and child healthNeurology and neuromuscular diseasesGene and molecular therapy
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Publications (32)

|Oct 26, 2026
Prenatal Presentation of RMRP-Related Skeletal Dysplasia: Clinical and Genomic Expansion.

|Oct 08, 2026
Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

|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

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Frequent Collaborators

6 joint publications

Eduardo F Tizzano

4 joint publications

Isabel Filges

4 joint publications

Marta Codina-Solà

3 joint publications

Cristel Thauvin-Robinet