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1 Ergebnisse
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Deep intronicNIPBL de novomutations and differential diagno..:
Coursimault, Juliette
;
Cassinari, Kévin
;
Lecoquierre, François
...
Human Mutation. 43 (2022) 12 - p. 1882-1897 , 2022
Link:
https://doi.org/10.1002/humu.24438
RT Journal T1
Deep intronicNIPBL de novomutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.24438&Exemplar=1&LAN=DE A1 Coursimault, Juliette A1 Cassinari, Kévin A1 Lecoquierre, François A1 Quenez, Olivier A1 Coutant, Sophie A1 Derambure, Céline A1 Vezain, Myriam A1 Drouot, Nathalie A1 Vera, Gabriella A1 Schaefer, Elise A1 Philippe, Anaïs A1 Doray, Bérénice A1 Lambert, Laëtitia A1 Ghoumid, Jamal A1 Smol, Thomas A1 Rama, Mélanie A1 Legendre, Marine A1 Lacombe, Didier A1 Fergelot, Patricia A1 Olaso, Robert A1 Boland, Anne A1 Deleuze, Jean‐François A1 Goldenberg, Alice A1 Saugier‐Veber, Pascale A1 Nicolas, Gaël PB Hindawi Limited YR 2022 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 43 IS 12 SP 1882 OP 1897 LK http://dx.doi.org/https://doi.org/10.1002/humu.24438 DO https://doi.org/10.1002/humu.24438 SF ELIB - SuUB Bremen
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