Browsing by Subject Secuenciación del Exoma Completo

Showing results 1 to 2 of 2
Issue DateTitleAuthor(s)
Aug-2021Involuntary moaning in a Hispanic family with eight affected membersGisatulin, Maria ; Rossi, Malco ; Perandones, Claudia ; Klein, Christine ; Lohmann, Katja ; Merello, Marcelo 
Jun-2021Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome SequencingMendez, Rodrigo ; Iqbal, Sumaiya ; Vishnopolska, Sebastián A ; Martínez, Cinthia ; Dibner, Glenda ; Aliano, Rocio ; Zaiat, Jonathan ; Biagioli, Germán ; Fernandez, Cecilia ; Turjanski, Adrián G ; Campbell, Arthur J ; Mercado, Graciela ; Marti, Marcelo A