Pauline Marzin

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 4

Top Venues

Journal of medical genetics

Genetics in medicine : official journal of the American College of Medical Genetics

American journal of medical genetics. Part C, Seminars in medical genetics

Hôpital universitaire Necker-Enfants malades

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hôpital universitaire Necker-Enfants malades

France

MD :: Fédération de Génétique et Institut Imagine

Publications

Julie Plaisancié, Jelena Martinovic, Bertrand Chesneau, Sandra Whalen, Diana Rodriguez, Séverine Audebert-Bellanger, Pauline Marzin, Sarah Grotto, Isabelle Perthus, Richard James Holt, Dorine A Bax, Nicola Ragge, Nicolas Chassaing
Clinical, genetic and biochemical signatures of RBP4 -related ocular malformations. Journal of medical genetics (2023)
Pauline Marzin, Sophie Rondeau, Jean-Luc Alessandri, Klaus Dieterich, Carine le Goff, Clémentine Mahaut, Sandra Mercier, Caroline Michot, Oana Moldovan, Gianmaria Miolo, Massimiliano Rossi, Julien Van-Gils, Christine Francannet, Matthieu Robert, Jean-Philippe Jaïs, Céline Huber, Valerie Cormier-Daire
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature. Journal of medical genetics (2023)
Pauline Marzin, Briac Thierry, Andrea Dancasius, Anne Cavau, Caroline Michot, Sophie Rondeau, Geneviève Baujat, Gilles Phan, Maryse Bonnière, Muriel Le Bourgeois, Diala Khraiche, Zagorka Pejin, Damien Bonnet, Christophe Delacourt, Valérie Cormier-Daire
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases. Genetics in medicine : official journal of the American College of Medical Genetics 23 (2) (2020)
Pauline Marzin, Sophie Rondeau, Kimberly A Aldinger, Jean-Luc Alessandri, Bertrand Isidor, Delphine Heron, Boris Keren, William B Dobyns, Valérie Cormier-Daire
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Pauline Marzin