A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis
Titel:
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis
Auteur:
Kiraz, Aslihan Erdogan, Murat Balta, Burhan Gumus, Hakan Mutlu, Mehmet Burak Mammadova, Nurana Ozcelik, Firat Sahin, Izem Olcay Guven, Ahmet Sami Kumandas, Sefer Savranlar, Ahmet Karaman, Filiz Per, Huseyin Dundar, Munis