Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleTHE MED13L HAPLOINSUFFICIENCY SYNDROME ASSOCIATED WITH DE NOVO NONSENSE VARIANT (P.GLN1981*).AuthorsDawidziuk, Mateusz; Kutkowska-Kaźmierczak, Anna; Gawliński, Paweł; Wiszniewski, Wojciech; Gos, Monika; Stawiński, Piotr; Rydzanicz, Małgorzata; Kosińska, Joanna; Własienko, Paweł; Malinowska (Kordowska), Olga; Bartnik-Głaska, Magdalena; Bernaciak, Joanna; Szczałuba, Krzysztof; Bekiesińska-Figatowska, Monika; Płoski, Rafał; Bal, Jerzy; Rzońca-Niewczas, Sylwia OlimpiaPublicationJournal of Mother & Child, 2020, Vol 24, Issue 3, p32ISSN2719-6488Publication typeArticleDOI10.34763/jmotherandchild.20202403.2021.d-20-00003