Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
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Published:2023-11
Issue:11
Volume:25
Page:100950
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Bosch ElisabethORCID, Popp BerntORCID, Güse EstherORCID, Skinner CindyORCID, van der Sluijs Pleuntje J.ORCID, Maystadt IsabelleORCID, Pinto Anna MariaORCID, Renieri AlessandraORCID, Bruno Lucia Pia, Granata Stefania, Marcelis CarloORCID, Baysal ÖzlemORCID, Hartwich Dewi, Holthöfer LauraORCID, Isidor Bertrand, Cogne BenjaminORCID, Wieczorek DagmarORCID, Capra ValeriaORCID, Scala MarcelloORCID, De Marco PatriziaORCID, Ognibene MarziaORCID, Jamra Rami AbouORCID, Platzer KonradORCID, Carter Lauren B.ORCID, Kuismin OutiORCID, van Haeringen ArieORCID, Maroofian RezaORCID, Valenzuela IreneORCID, Cuscó IvonORCID, Martinez-Agosto Julian A.ORCID, Rabani Ahna M., Mefford Heather C., Pereira Elaine M.ORCID, Close Charlotte, Anyane-Yeboa Kwame, Wagner Mallory, Hannibal Mark C., Zacher PiaORCID, Thiffault IsabelleORCID, Beunders GeaORCID, Umair MuhammadORCID, Bhola Priya T.ORCID, McGinnis Erin, Millichap John, van de Kamp Jiddeke M.ORCID, Prijoles Eloise J., Dobson Amy, Shillington AmelleORCID, Graham Brett H.ORCID, Garcia Evan-Jacob, Galindo Maureen KellyORCID, Ropers Fabienne G.ORCID, Nibbeling Esther A.R.ORCID, Hubbard Gail, Karimov Catherine, Goj Guido, Bend Renee, Rath Julie, Morrow Michelle M., Millan Francisca, Salpietro VincenzoORCID, Torella AnnalauraORCID, Nigro VincenzoORCID, Kurki Mitja, Stevenson Roger E.ORCID, Santen Gijs W.E.ORCID, Zweier Markus, Campeau Philippe M.ORCID, Severino MariasavinaORCID, Reis AndréORCID, Accogli AndreaORCID, Vasileiou GeorgiaORCID
Funder
Deutsche Forschungsgemeinschaft Bundesministerium für Bildung und Forschung
Subject
Genetics (clinical)
Reference38 articles.
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