The clinical utility of targeted NGS in neurodevelopmental disorders: a case of a girl with pontocerebellar hypoplasia caused by TSEN54 gene pathogenic variants

• Authors: WAYHELOVÁ Markéta; VALLOVÁ Vladimíra; HLADÍKOVÁ E.; FILKOVÁ Hana; OPPELT Jan; ŠOUKALOVÁ Jana; KUGLÍK Petr
• Year of publication: 2020
• Type: Conference abstract
• MU Faculty or unit: Faculty of Science

Related projects

• Podpora výzkumné činnosti studentů molekulární biologie a genetiky 8