Pauline Marzin
5PUBLICATIONS
46CO-AUTHORS
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Publications (5)
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|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
|Sep 21, 2023
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.Pauline Marzin, Sophie Rondeau, Jean-Luc Alessandri
|Aug 16, 2023
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.Julie Plaisancié, Jelena Martinovic, Bertrand Chesneau
|Oct 21, 2020
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.Pauline Marzin, Briac Thierry, Andrea Dancasius
|Oct 24, 2019
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.Pauline Marzin, Sophie Rondeau, Kimberly A Aldinger
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Frequent Collaborators
1 joint publications
Kimberly A Aldinger
1 joint publications
William B Dobyns
1 joint publications
Bertrand Chesneau
1 joint publications
Nicolas Chassaing
1 joint publications
Amandine Santini
1 joint publications
Angelo Tognon
1 joint publications
Guillaume Velasco
1 joint publications
Gilles Phan
1 joint publications
Fabien Maury
1 joint publications
Caroline Michot
