Browsing by Subject Exome sequencing

Showing results 1 to 2 of 2
Issue DateTitleAuthor(s)
2021Clinical and Molecular Update on the Fourth Reported Family with Hamamy SyndromeMégarbané, André; Hana, Sayeeda; Mégarbané, Hala; Castro, Christel; Baulande, Sylvain; Criqui, Audrey; Roëckel-Trevisiol, Nathalie; Dagher, Christel; Al-Ali, Mahmoud Taleb; Desvignes, Jean-Pierre; Mahfoud, Daniel; El-Hayek, Stephany; Delague, Valérie
5-Feb-2024Severe aldosterone synthase deficiency in a nine-day old Lebanese boy: the importance of functional studies to establish pathogenicity of seemingly benign variants in CYP11B2Ghaddhab, Chiraz; Capper, Cameron C; Larrivée-Vanier, Stéphanie; Fayad, Wissam; Olivier, Patricia; Van Vliet, Guy; Auchus, Richard J; Deladoëy, Johnny