Tanguy Demaret

7PUBLICATIONS
86CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Quaternary environmentsNeonatologyPredictive and prognostic markersPacific Peoples engineering
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Publications (7)

|Jul 31, 2025
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.

Shannon M Vandriel, Li-Ting Li, Huiyu She

|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu

|Mar 05, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Clara Houdayer, Kathleen Rooney, Liselot van der Laan

|Dec 15, 2021
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.

Tanguy Demaret, Florence Lacaille, Camille Wicker

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