Silvestre Cuinat - Dissemin

Dissemin is shutting down on January 1st, 2025

Language
Login

All papers authored by Silvestre Cuinat

This paper was not found in any repository, but could be made available legally by the author.

2023 Natarin Caengprasath, Mathilde Nizon, Ratchathorn Panchaprateep, Benjamin Cogne, Silvestre Cuinat

ORCID

, Hélène Auburt, Nathalie Jonca, Thantrira Porntaveetus, Vorasuk Shotelersuk

Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies

Upload

This paper was not found in any repository, but could be made available legally by the author.

Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck

ORCID

, Charles Schwartz, Laurence Faivre, Patrick Callier and 28 other authors

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

Upload

This paper was not found in any repository, but could be made available legally by the author.

Silvestre Cuinat

ORCID

, Chloé Quélin, Laurent Pasquier, Philippe Loget, Dominique Aussel, Sylvie Odent, Annie Laquerrière, Maia Proisy, Sylvie Mazoyer, Marion Delous, Patrick Edery, Nicolas Chatron, Gaetan Lesca, Audrey Putoux

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect

Upload

This paper was not found in any repository, but could be made available legally by the author.

Silvestre Cuinat

ORCID

, Stéphane Bézieau, Wallid Deb, Sandra Mercier, Virginie Vignard, Bertrand Isidor, Sébastien Küry, Frédéric Ebstein

ORCID

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

Upload

This paper was not found in any repository, but could be made available legally by the author.

Silvestre Cuinat

ORCID

Response to Chunquan Cai et al

Upload

This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier and 29 other authors

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

Upload

This paper was not found in any repository, but could be made available legally by the author.

2022 Silvestre Cuinat

ORCID

, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann

ORCID

, Richard H. van Jaarsveld, Koen L. van Gassen, Jasper J. van der Smagt, Catharina M. L. Volker-Touw, Sjoerd J. B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa A. Nugud, Hemad Yasaei and 36 other authors

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Upload

This paper is made freely available by the publisher.

Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot‐Bastaraud, Claire Beneteau, Marie Denis‐Musquer, Peter D. Turnpenny, Charles Coutton

ORCID

, Gaëlle Vieville, Julien Thevenon, Austin Larson, Florence Petit

ORCID

, Elise Boudry, Thomas Smol and 24 other authors

Understanding the new BRD4 ‐related syndrome: Clinical and genomic delineation with an international cohort study

Download from onlinelibrary.wiley.com

This paper is made freely available by the publisher.

2020 Valentin Ruault

ORCID

, Kevin Yauy, Aurélie Fabre, Mélanie Fradin, Julien Van-Gils, Chloé Angelini, Geneviève Baujat, Patricia Blanchet, Silvestre Cuinat

ORCID

, Bertrand Isidor, Christian Jorgensen, Didier Lacombe, Sébastien Moutton, Sylvie Odent, Elodie Sanchez and 6 other authors

Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

Download from api.wiley.com

Missing publications? Search for publications with a matching author name.