Article

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2023

Bosch Elisabeth, Popp Bernt, Güse Esther, Skinner Cindy, van der Sluijs Pleuntje J, Maystadt Isabelle, Pinto Anna Maria, Renieri Alessandra, Bruno Lucia Pia, Granata Stefania, Marcelis Carlo, Baysal Özlem, Hartwich Dewi, Holthöfer Laura, Isidor Bertrand, Cogne Benjamin, Wieczorek Dagmar, Capra Valeria, Scala Marcello, De Marco Patrizia, Ognibene Marzia, Jamra Rami Abou, Platzer Konrad, Carter Lauren B, Kuismin Outi, van Haeringen Arie, Maroofian Reza, Valenzuela Irene, Cuscó Ivon, Martinez-Agosto Julian A, Rabani Ahna M, Mefford Heather C, Pereira Elaine M, Close Charlotte, Anyane-Yeboa Kwame, Wagner Mallory, Hannibal Mark C, Zacher Pia, Thiffault Isabelle, Beunders Gea, Umair Muhammad, Bhola Priya T, McGinnis Erin, Millichap John, van de Kamp Jiddeke M, Prijoles Eloise J, Dobson Amy, Shillington Amelle, Graham Brett H, Garcia Evan-Jacob, Galindo Maureen Kelly, Ropers Fabienne G, Nibbeling Esther A R, Hubbard Gail, Karimov Catherine, Goj Guido, Bend Renee, Rath Julie, Morrow Michelle M, Millan Francisca, Salpietro Vincenzo, Torella Annalaura, Nigro Vincenzo, Kurki Mitja, Stevenson Roger E, Santen Gijs W E, Zweier Markus, Campeau Philippe M, Severino Mariasavina, Reis André, Accogli Andrea, Vasileiou Georgia