Browsing by Subject Exome sequencing
Showing results 1 to 2 of 2
Issue Date | Title | Author(s) |
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2021 | Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome | Mégarbané, 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-2024 | Severe aldosterone synthase deficiency in a nine-day old Lebanese boy: the importance of functional studies to establish pathogenicity of seemingly benign variants in CYP11B2 | Ghaddhab, Chiraz; Capper, Cameron C; Larrivée-Vanier, Stéphanie; Fayad, Wissam; Olivier, Patricia; Van Vliet, Guy; Auchus, Richard J; Deladoëy, Johnny |