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Graessner, Holm, Zurek, Birte, Hoischen, Alexander, Beltran, Sergi
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Published in PloS one (19.04.2012)
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Published in Journal of investigative dermatology (01.01.2017)
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Position paper on management of personal data in environment and health research in Europe
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Thompson, Rachel, Papakonstantinou Ntalis, Anastasios, Beltran, Sergi, Töpf, Ana, Paula Estephan, Eduardo, Polavarapu, Kiran, ’t Hoen, Peter A. C., Missier, Paolo, Lochmüller, Hanns
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer
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Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A, Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda, Ferlini, Alessandra
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Published in Scientific reports (03.11.2023)
Published in Scientific reports (03.11.2023)
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Maceda, Iago, Álvarez, Miguel Martín, Athanasiadis, Georgios, Tonda, Raúl, Camps, Jordi, Beltran, Sergi, Camps, Agustí, Fàbrega, Jordi, Felisart, Josefina, Grané, Joan, Remón, José Luis, Serra, Jordi, Moral, Pedro, Lao, Oscar
Published in European journal of human genetics : EJHG (01.10.2021)
Published in European journal of human genetics : EJHG (01.10.2021)
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Adams, David R., van Karnebeek, Clara D.M., Agulló, Sergi Beltran, Faùndes, Víctor, Jamuar, Saumya Shekhar, Lynch, Sally Ann, Pintos-Morell, Guillem, Puri, Ratna Dua, Shai, Ruty, Steward, Charles A., Tumiene, Biruté, Verloes, Alain
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Toll, Agustí, Fernández, Luis C., Pons, Tirso, Groesser, Leopold, Sagrera, Ana, Carrillo-de Santa Pau, Enrique, Vicente, Asunción, Baselga, Eulàlia, Vázquez, Miguel, Beltrán, Sergi, Pisano, David G., Rueda, Daniel, Gut, Marta, Pujol, Ramon M., Hafner, Christian, Gut, Ivo, Valencia, Alfonso, Real, Francisco X.
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Published in Journal of investigative dermatology (01.08.2016)
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Published in Epigenetics (31.12.2023)
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Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients
García-Cazorla, Angels, Oyarzabal, Alfonso, Fort, Joana, Robles, Concepción, Castejón, Esperanza, Ruiz-Sala, Pedro, Bodoy, Susanna, Merinero, Begoña, Lopez-Sala, Anna, Dopazo, Joaquín, Nunes, Virginia, Ugarte, Magdalena, Artuch, Rafael, Palacín, Manuel, Rodríguez-Pombo, Pilar, Alcaide, Patricia, Navarrete, Rosa, Sanz, Paloma, Font-Llitjós, Mariona, Vilaseca, Ma Antonia, Ormaizabal, Aida, Pristoupilova, Anna, Agulló, Sergi Beltran
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Published in Human mutation (01.04.2014)
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J, Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Published in Orphanet journal of rare diseases (12.08.2020)
Published in Orphanet journal of rare diseases (12.08.2020)
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