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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-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 |
| 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 |
| 5-Jul-2018 | Inotersen treatment for patients with hereditary transthyretin amyloidosis | Benson, Merrill D.; Waddington-Cruz, Márcia; Berk, John L.; Polydefkis, Michael; Dyck, Peter J.; Wang, Annabel K.; Planté Bordeneuve, Violaine; Barroso, Fabio A.; Merlini, Giampaolo; Obici, Laura; Scheinberg, Morton; Brannagan, Thomas H.; Litchy, William J.; Whelan, Carol; Drachman, Brian M.; Adams, David; Heitner, Stephen B.; Conceição, Isabel; Schmidt, Hartmut H.; Vita, Giuseppe; Campistol Plana, Josep M.; Gamez, Josep; Gorevic, Peter D.; Gane, Edward; Shah, Amil M.; Solomon, Scott D.; Monia, Brett P.; Hughes, Steven G.; Kwoh, T. Jesse; McEvoy, Bradley W.; Jung, Shiangtung W; Baker, Brenda F.; Ackermann, Elizabeth J.; Gertz, Morie A.; Coelho, Teresa |
| 31-Aug-2022 | Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia | Sogorb Esteve, Aitana; Nilsson, Johanna; Swift, Imogen J.; Heller, Carolin; Bocchetta, Martina; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; van Swieten, John C.; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; Sanchez Valle, Raquel; Laforce Jr., Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; Santana, Isabel; Butler, Chris R.; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Gobom, Johan; Brinkmalm, Ann; Blennow, Kaj; Zetterberg, Henrik; Rohre, Jonathan D.; Genetic FTD Initiative |
| 14-Aug-2020 | Role of POLE and POLD1 in familial cancer | Mur, Pilar; García Mulero, Sandra; Valle, Jesús del; Magraner Pardo, Lorena; Vidal-Bel, August; Pineda Riu, Marta; Cinnirella, Giacomo; Martín Ramos, Edgar; Pons, Tirso; López Dóriga Guerra, Adriana; Belhadj, Sami; Feliubadaló i Elorza, Maria Lídia; Muñoz Torres, Pau M.; Navarro, Matilde; Grau Garcés, Èlia; Darder, Esther; Llort, Gemma; Sanz, Judit; Ramón y Cajal, Teresa; Balmaña, Judith; Brunet, Joan; Moreno Aguado, Víctor; Piulats, Josep M.; Matias-Guiu, Xavier; Sanz Pamplona, Rebeca; Aligué i Alemany, Rosa Maria; Capellá, G. (Gabriel); Lázaro García, Conxi; Valle, Laura |
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