Mendez, Rodrigo
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Nombre completo
Mendez, Rodrigo
Publicaciones
(Articles)
Results 1-3 of 3 (Search time: 0.13 seconds).
| Issue Date | Title | Author(s) | |
|---|---|---|---|
| 1 | 26-Mar-2019 | A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome | Mendez, Rodrigo ; Delea, Marisol ; Dain, Liliana ; Rittler, Mónica |
| 2 | 22-Jun-2022 | Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease | Delea, Marisol ; Massara, Lucía S ; Espeche, Lucía ; Bidondo, Maria Paz ; Barbero, Pablo ; Oliveri, Jaen ; Brun, Paloma ; Fabro, Mónica ; Galain, Micaela ; Fernandez, Cecilia ; Taboas, Melisa ; Bruque, Carlos David ; Kolomenski, Emilio ; Izquiedo, Agustín ; Berenstein, Ariel ; Cosentino, Viviana R ; Martinoli, Celeste ; Vilas, Mariana ; Rittler, Mónica ; Mendez, Rodrigo ; Furforo, Lilian ; Liascovich, Rosa ; Groisman, Boris ; Rozental, Sandra ; Dain, Liliana |
| 3 | Jun-2021 | Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing | Mendez, 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 |