Browsing by Subject WES

Showing results 1 to 1 of 1
Issue DateTitleAuthor(s)
2019A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)Mégarbané, André; Hmaimess, Ghassan; Bizzari, Sami; El-Bazzal, Lara; Al-Ali, Mahmoud Taleb; Stora, Samantha; Delague, Valerie; El-Hayek, Stephany