| Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling M Amyere, N Revencu, R Helaers, E Pairet, E Baselga, M Cordisco, ... Circulation 136 (11), 1037-1048, 2017 | 241 | 2017 |
| Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum. M de Mello Copelli, E Pairet, IL Monlleó, EM Ribeiro, R Helaers, TP Vieira, ... European Journal of Human Genetics: EJHG, 2023 | | 2023 |
| Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum M Atique Tacla, M de Mello Copelli, E Pairet, IL Monlleó, EM Ribeiro, ... European Journal of Human Genetics, 1-10, 2023 | | 2023 |
| SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review MM Copelli, E Pairet, M Atique-Tacla, TP Vieira, S Appenzeller, R Helaers, ... Genes 14 (4), 882, 2023 | | 2023 |
| Molecular investigation in Orofacial Clefts with Microphthalmia-Anophthalmia-Coloboma spectrum VL Gil-da-Silva-Lopes, M Atique-Tacla, M Copelli, E Pairet, I Monlleó, ... | | 2023 |
| Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling N Revencu ISSVA meeting, 2018 | | 2018 |
| XIII Semana de Pesquisa-2022 M de Mello Copelli, MA Tacla, E Pairet, IC Sgardioli, TAP Vieira, ... | | |
