Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 12(43), p. 1882-1897, 2022
DOI: 10.1002/humu.24438
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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Journal article published in 2022 by
Juliette Coursimault 
,
Kévin Cassinari ,
François Lecoquierre ,
Olivier Quenez ,
Sophie Coutant,
Céline Derambure ,
Myriam Vezain ,
Nathalie Drouot,
Gabriella Vera,
Elise Schaefer,
Anaïs Philippe,
Bérénice Doray,
Laëtitia Lambert,
Jamal Ghoumid ,
Thomas Smol
and other authors.
,
Kévin Cassinari ,
François Lecoquierre ,
Olivier Quenez ,
Sophie Coutant,
Céline Derambure ,
Myriam Vezain ,
Nathalie Drouot,
Gabriella Vera,
Elise Schaefer,
Anaïs Philippe,
Bérénice Doray,
Laëtitia Lambert,
Jamal Ghoumid ,
Thomas Smol
and other authors.
This paper was not found in any repository, but could be made available legally by the author.
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