Willems Marjolaine

30PUBLICATIONS
184CO-AUTHORS
NanometrologyMedical biochemistry - nucleic acidsEpigenetics (incl. genome methylation and epigenomics)Nanoscale characterisationNeurology and neuromuscular diseases
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Publications (30)

|Jun 14, 2026
Cutis Tricolor-Like Pigmentary Mosaicism in Mowat-Wilson Syndrome: Phenotypic Overlap With Ruggieri-Happle Syndrome.

|Apr 23, 2026
Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies.

|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Amandine Santini, Angelo Tognon, Anne-Claire Richard

|Mar 26, 2026
Linear and whorled hypermelanosis: A multicentre retrospective cohort of 33 patients.

Marion Descos, Paul Kuentz, Smail Hadj-Rabia

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

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Mar 22, 2026
Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

Romain Martineau, Constance Wells, Florent Fuchs

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Frequent Collaborators

7 joint publications

Laurence Faivre

4 joint publications

David Geneviève

3 joint publications

Paul Kuentz

3 joint publications

Antonio Vitobello