학술논문
'학술논문'
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1~10
Academic Journal
Fredwall, Svein; AlSayed, Moeenaldeen; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valérie; Fauroux, Brigitte; Guillén-Navarro, Encarna; Innig, Florian; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Pejin, Zagorka; Sessa, Marco; Sousa, Sérgio B.; Irving, Melita
Advances in Therapy. 41(7):2545-2558
HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases
Academic Journal
Martínez-Romero, María Carmen; Hernández-Contreras, María Encarnación; Bafalliu-Vidal, Juan Antonio; Barreda-Sánchez, María; Martínez-Menchón, Teresa; Cabello-Chaves, Virginia; Guillén-Navarro, Encarna
Genes. June, 2024, Vol. 15 Issue 6
Academic Journal
Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Geneviève; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valérie; Fredwall, Svein; Guillen-Navarro, Encarna; Hoyer-Kuhn, Heike; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sérgio B.
Orphanet Journal of Rare Diseases. 18(1)
Academic Journal
Ballesta-Martínez, María Juliana; Pérez-Fernández, Virginia; López-González, Vanesa; Sánchez-Soler, María José; Serrano-Antón, Ana Teresa; Rodríguez-Peña, Lidia Isolina; Barreda-Sánchez, Maria; Armengol-Dulcet, Lluís; Guillén-Navarro, Encarna
Orphanet Journal of Rare Diseases. 18(1)
Academic Journal
Alanay, Yasemin; Mohnike, Klaus; Nilsson, Ola; Alves, Inês; AlSayed, Moeenaldeen; Appelman-Dijkstra, Natasha M.; Baujat, Genevieve; Ben-Omran, Tawfeg; Breyer, Sandra; Cormier-Daire, Valerie; Gregersen, Pernille Axél; Guillén-Navarro, Encarna; Högler, Wolfgang; Maghnie, Mohamad; Mukherjee, Swati; Cohen, Shelda; Pimenta, Jeanne; Selicorni, Angelo; Semler, J. Oliver; Sigaudy, Sabine; Popkov, Dmitry; Sabir, Ian; Noval, Susana; Sessa, Marco; Irving, Melita
Orphanet Journal of Rare Diseases. 18(1)
Academic Journal
Maghnie, Mohamad; Semler, Oliver; Guillen-Navarro, Encarna; Selicorni, Angelo; Heath, Karen E.; Haeusler, Gabriele; Hagenäs, Lars; Merker, Andrea; Leiva-Gea, Antonio; González, Vanesa López; Raimann, Adalbert; Rehberg, Mirko; Santos-Simarro, Fernando; Ertl, Diana-Alexandra; Gregersen, Pernille Axél; Onesimo, Roberta; Landfeldt, Erik; Jarrett, James; Quinn, Jennifer; Rowell, Richard; Pimenta, Jeanne; Cohen, Shelda; Butt, Thomas; Shediac, Renée; Mukherjee, Swati; Mohnike, Klaus
Orphanet Journal of Rare Diseases. 18(1)
Cruz, Raquel; Diz-de Almeida, Silvia; López de Heredia, Miguel; Quintela, Inés; Ceballos, Francisco C; Pita, Guillermo; Lorenzo-Salazar, José M; González-Montelongo, Rafaela; Gago-Domínguez, Manuela; Sevilla Porras, Marta; Tenorio Castaño, Jair Antonio; Nevado, Julian; Aguado, Jose María; Aguilar, Carlos; Aguilera-Albesa, Sergio; Almadana, Virginia; Almoguera, Berta; Alvarez, Nuria; Andreu-Bernabeu, Álvaro; Arana-Arri, Eunate; Arango, Celso; Arranz, María J; Artiga, Maria-Jesus; Baptista-Rosas, Raúl C; Barreda-Sánchez, María; Belhassen-Garcia, Moncef; Bezerra, Joao F; Bezerra, Marcos A C; Boix-Palop, Lucía; Brion, María; Brugada, Ramón; Bustos, Matilde; Calderón, Enrique J; Carbonell, Cristina; Castano, Luis; Castelao, Jose E; Conde-Vicente, Rosa; Cordero-Lorenzana, M Lourdes; Cortes-Sanchez, Jose L; Corton, Marta; Darnaude, M Teresa; De Martino-Rodríguez, Alba; Del Campo-Pérez, Victor; Diaz de Bustamante, Aranzazu; Domínguez-Garrido, Elena; Luchessi, Andre D; Eiros, Rocío; Estigarribia Sanabria, Gladys Mercedes; Carmen Fariñas, María; Fernández-Robelo, Uxía; Fernández-Rodríguez, Amanda; Fernández-Villa, Tania; Gil-Fournier, Belén; Gómez-Arrue, Javier; González Álvarez, Beatriz; Gonzalez Bernaldo de Quirós, Fernan; González-Peñas, Javier; Gutiérrez-Bautista, Juan F; Herrero, María José; Herrero-Gonzalez, Antonio; Jimenez-Sousa, María A; Lattig, María Claudia; Liger Borja, Anabel; Lopez-Rodriguez, Rosario; Mancebo, Esther; Martín-López, Caridad; Martín, Vicente; Martinez-Nieto, Oscar; Martinez-Lopez, Iciar; Martinez-Resendez, Michel F; Martinez-Perez, Angel; Mazzeu, Juliana F; Merayo Macías, Eleuterio; Minguez, Pablo; Moreno Cuerda, Victor; Silbiger, Vivian N; Oliveira, Silviene F; Ortega-Paino, Eva; Parellada, Mara; Paz-Artal, Estela; Santos, Ney P C; Pérez-Matute, Patricia; Perez, Patricia; Pérez-Tomás, M Elena; Perucho, Teresa; Pinsach-Abuin, Mel Lina; Pompa-Mera, Ericka N; Porras-Hurtado, Gloria L; Pujol, Aurora; Ramiro León, Soraya; Resino, Salvador; Fernandes, Marianne R; Rodríguez-Ruiz, Emilio; Rodriguez-Artalejo, Fernando; Rodriguez-Garcia, José A; Ruiz Cabello, Francisco; Ruiz-Hornillos, Javier; Ryan, Pablo; Soria, José Manuel; Souto, Juan Carlos; Tamayo, Eduardo; Tamayo-Velasco, Alvaro; Taracido-Fernandez, Juan Carlos; Teper, Alejandro; Torres-Tobar, Lilian; Urioste, Miguel; Valencia-Ramos, Juan; Yáñez, Zuleima; Zarate, Ruth; Nakanishi, Tomoko; Pigazzini, Sara; Degenhardt, Frauke; Butler-Laporte, Guillaume; Maya-Miles, Douglas; Bujanda, Luis; Bouysran, Youssef; Palom, Adriana; Ellinghaus, David; Martínez-Bueno, Manuel; Rolker, Selina; Amitrano, Sara; Roade, Luisa; Fava, Francesca; Spinner, Christoph D; Prati, Daniele; Bernardo, David; Garcia, Federico; Darcis, Gilles; Fernández-Cadenas, Israel; Holter, Jan Cato; Banales, Jesus M; Frithiof, Robert; Duga, Stefano; Asselta, Rosanna; Pereira, Alexandre C; Romero-Gómez, Manuel; Nafría-Jiménez, Beatriz; Hov, Johannes R; Migeotte, Isabelle; Renieri, Alessandra; Planas, Anna M; Ludwig, Kerstin U; Buti, Maria; Rahmouni, Souad; Alarcón-Riquelme, Marta E; Schulte, Eva C; Franke, Andre; Karlsen, Tom H; Valenti, Luca; Zeberg, Hugo; Richards, Brent; Ganna, Andrea; Boada, Mercè; de Rojas, Itziar; Ruiz, Agustín; Sánchez-Juan, Pascual; Real, Luis Miguel; Guillen-Navarro, Encarna; Ayuso, Carmen; González-Neira, Anna; Riancho, José A; Rojas-Martinez, Augusto; Flores, Carlos; Lapunzina, Pablo; Carracedo, Angel
Human Molecular Genetics. 31(22):3789-3806
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