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| Issue Date | Title | Author(s) |
|---|---|---|
| 21-Jan-2020 | Stenosis coexists with compromised α1-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome | Jiménez Altayó, Francesc; Ortiz Romero, Paula; Puertas Umbert, Lídia; Dantas, Ana Paula; Pérez, Belén; Vila, Elisabet; D'Ocon, Pilar; Campuzano Uceda, María Victoria |
| 26-Jan-2022 | Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis | Haimov, Diana; Lieberman, Sari; Castellvi Bel, Sergi; Nielsen, Maartje; Goldberg, Yael |
| 2017 | Hereditary Human Prion Diseases: an Update | Schmitz, Matthias; Dittmar, Kathrin; Llorens Torres, Franc; Gelpi, Ellen; Ferrer, Isidro (Ferrer Abizanda); Schulz-Schaeffer, Walter J.; Zerr, Inga |
| 19-Oct-2020 | Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue | Egea Guri, Gustavo; Jiménez Altayó, Francesc; Campuzano Uceda, María Victoria |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group |
| 28-Jun-2021 | No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study | Dominguez Valentin, Mev; Plazzer, John Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capellá, G. (Gabriel); Balaguer Prunés, Francesc; Macrae, Finlay; Winship, Ingrid M.; Thomas, Huw; Evans, D. Gareth; Burn, John; Greenblatt, Marc; de Vos Tot Nederveen Cappel, Wouter H.; Sijmons, Rolf H.; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Valle, Adriana Della; Lopez Kostner, Francisco; Alvarez Valenzuela, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans; Perne, Claudia; Büttner, Reinhard; Görgens, Heike; Holinski Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Weitz, Jürgen; Steinke Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Crosbie, Emma J.; Pineda, Marta; Navarro, Matilde; Brunet, Joan; Moreira, Leticia; Sánchez, Ariadna; Serra Burriel, Miquel; Mints, Miriam; Kariv, Revital; Rosner, Guy; Piñero, Tamara Alejandra; Pavicic, Walter Hernán; Kalfayan, Pablo; ten Broeke, Sanne W.; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen Sinisalo, Laura; Lepistö, Anna; Peltomäki, Päivi; Hopper, John L.; Ko Win, Aung; Buchanan, Daniel D.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Hansen, Thomas V. O.; Lindberg, Lars; Rødland, Einar Andreas; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Seppälä, Toni T.; Møller, Pål |
| 28-Feb-2020 | Neuronal and astrocytic differentiation from Sanfilippo C syndrome iPSCs for disease modeling and drug development | Benetó, Noelia; Cozar, Mónica; Castilla-Vallmanya, Laura; Zetterdahl, Oskar G.; Sacultanu, Madalina; Segur-Bailach, Eulalia; García-Morant, María; Ribes, Antonia; Ahlenius, Henrik; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Canals Montferrer, Isaac |
| 4-May-2022 | Exercise Capacity in Children and Adolescents With Congenital Heart Disease: A Systematic Review and Meta-Analysis | Villaseca Rojas, Yenny; Varela Melo, Javiera; Torres Castro, Rodrigo; Mazzucco, Guillermo; Vilaró, Jordi; Blanco, Isabel; Vasconcello Castillo, Luis |
| 18-Jun-2019 | Congenital extrahepatic portosystemic shunts (Abernethy malformation): An international observational study | Baiges Aznar, Anna; Turon, Fanny; Simón Talero, Macarena; Tasayco, Stephanie; Bueno, Javier; Zekrini, Kamal; Plessier, Aurélie; Franchi-Abella, Stéphanie; Guerin, Florent; Mukund, Amar; Eapen, C.E.; Goel, Ashish; Shyamkumar, Nidugala K.; Coenen, Sandra; Gottardi, Andrea de; Majumdar, Avik; Onali, Simona; Shukla, Akash; Carrilho, Flair José; Nacif, Lucas; Primignani, Massimo; Tosetti, Giulia; La Mura, Vincenzo; Nevens, Frederick; Witters, Peter; Tripathi, Dhiraj; Tellez, Luis; Martínez González, Javier; Álvarez-Navascués, Carmen; López Fraile López, Miguel; Procopet, Bogdan; Piscaglia, Fabio; Koning, Barbara de; Llop, Elba; Romero Cristobal, Mario; Tjwa, Eric; Monescillo-Francia, Alberto; Senzolo, Marco; Perez-LaFuente, Mercedes; Garcia Criado, María Ángeles; Segarra, Antonio; Kumar Sarin, Shiv; Hernández Gea, Virginia; Patch, David; Laleman, Wim; Hartog, Hermien; Valla, Dominique; Genescà, Joan; García Pagán, Juan Carlos |
| 23-Jun-2021 | Clinical, Molecular and Genetic Characteristics of Early Onset Gastric Cancer: Analysis of a Large Multicenter Study | Pocurull, Anna; Herrera Pariente, Cristina; Carballal, Sabela; Llach, Joan; Sánchez, Ariadna; Carot, Laura; Botargues, Josep Maria; Cuatrecasas Freixas, Miriam; Ocaña, Teresa; Balaguer, Francesc; Bujanda, Luis; Moreira, Leticia |
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