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(2)
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(2)
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(2)
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(2)
article
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2024
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2021
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Operations
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
2024 .
Karaa, Amel
|
Bertini, Enrico
|
Carelli, Valerio
|
Cohen, Bruce
|
Ennes, Gregory M.
|
Falk, Marni J.
|
Goldstein, Amy
|
Gorman, Gráinne
|
Haas, Richard
|
Hirano, Michio
|
Klopstock, Thomas
|
Koenig, Mary Kay
|
Kornblum, Cornelia
|
Lamperti, Costanza
|
Lehman, Anna
|
Longo, Nicola
|
Molnar, Maria Judit
|
Parikh, Sumit
|
Phan, Han
|
Pitceathly, Robert D. S.
|
Saneto, Russekk
|
Scaglia, Fernando
|
Servidei, Serenella
|
Tarnopolsky, Mark
|
Toscano, Antonio
|
Van Hove, Johan L. K.
|
Vissing, John
|
Vockley, Jerry
|
Finman, Jeffrey S.
|
Abbruscato, Anthony
|
Brown, David A.
|
Sullivan, Alana
|
Shiffer, James A.
|
Mancuso, Michelango
|
on behalf of the MMPOWER-3 Trial Investigators
2024
http://purl.org/ontology/bibo/Article
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease
2024 .
Kishnani, Priya S.
|
Byrne, Barry J.
|
Claeys, Kristl
|
Díaz-Manera, Jordi
|
Dimachkie, Mazen M.
|
Kushlaf, Hani
|
Mozaffar, Tahseen
|
Roberts, Mark
|
Schoser, Benedikt
|
Hummel, Noemi
|
Kopiec, Agnieszka
|
Holdbrook, Fred
|
Shohet, Simon
|
Toscano, Antonio
|
on behalf of the PROPEL Study Group
|
Sebok, Agnes
|
Pestronk, Alan
|
Dominovic-Kovacevic, Aleksandra
|
Khan, Aneal
|
Koritnik, Blaž
|
Tard, Celine
|
Lindberg, Christopher
|
Quinn, Colin
|
Eldridge, Crystal
|
Bodkin, Cynthia
|
Reyes-Leiva, David
|
Hughes, Derralynn
|
Stefanescu, Ela
|
Salort-Campana, Emmanuelle
|
Butler, Ernest
|
Bouhour, Francoise
|
Kim, Gee
|
Papadimas, George Konstantinos
|
Parenti, Giancarlo
|
Bartosik-Psujek, Halina
|
Akihiro, Hashiguchi
|
Lau, Heather
|
Pedro, Helio
|
Andersen, Henning
|
Amartino, Hernan
|
Shiraishi, Hideaki
|
Kobayashi, Hiroshi
|
Tarnev, Ivaylo
|
Vengoechea, Jaime
|
Avelar, Jennifer
|
Shin, Jin-Hong
|
Cauci, Jonathan
|
Alonso-Pérez, Jorge
|
Janszky, Jozsef
|
Berthy, Julie
|
Kornblum, Cornelia
|
Gutschmidt, Kristina
|
Molnar, Maria Judit
|
Wencel, Marie
|
Tarnopolsky, Mark
|
Tchan, Michel
|
Freimer, Miriam
|
Longo, Nicola
|
Vidal-Fernandez, Nuria
|
Musumeci, Olimpia
|
Goker-Alpan, Ozlem
|
Deegan, Patrick
|
Clemens, Paula R
|
Roxburgh, Richard
|
Henderson, Robert
|
Hopkin, Robert
|
Sacconi, Sabrina
|
Fecarotta, Simona
|
Attarian, Shahram
|
Wenninger, Stephan
|
Dearmey, Stephanie
|
Hiwot, Tarekegn
|
Burrow, Thomas
|
Ruck, Tobias
|
Sawada, Tomo
|
Laszlo, Vescei
|
Löscher, Wolfgang
|
Chien, Yin-Hsiu
2024
http://purl.org/ontology/bibo/Article
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
2024 .
Demidov, German
|
YALDIZ, BURCU
|
García-Peláez, José
|
de Boer, Elke
|
Schuermans, Nika
|
Van de Vondel, Liedewei
|
Paramonov, Ida
|
Johansson, Lennart
|
Musacchia, Francesco
|
Benetti, Elisa
|
Bullich Vilanova, Gemma
|
Sablauskas, Karolis
|
Beltran, Sergi
|
Gilissen, Christian
|
Hoischen, Alexander
|
Ossowski, Stephan
|
de Voer, Richarda M
|
Lohmann, Katja
|
Oliveira, Carla
|
Topf, Ana
|
Vissers, Lisenka E. L. M.
|
Solve-RD Consortium
|
Riess, Olaf
|
Haack, Tobias B.
|
Graessner, Holm
|
Zurek, Birte
|
Ellwanger, Kornelia
|
Sturm, Marc
|
Park, Joohyun
|
Schütz, Leon
|
Schulze-Hentrich, Julia M.
|
Schüle, Rebecca
|
Xu, Jishu
|
Kellner, Melanie
|
Resch, Baptist
|
Kolen, Ingrid
|
Synofzik, Matthis
|
Wilke, Carlo
|
Traschütz, Andreas
|
Beijer, Danique
|
Heutink, Peter
|
Schöls, Ludger
|
Hengel, Holger
|
Lerche, Holger
|
Boßelmann, Christian
|
Kegele, Josua
|
Lauerer-Braun, Robert
|
Lauxmann, Stephan
|
Brunner, Han
|
Scheffer, Hans
|
Hoogerbrugge, Nicoline
|
’t Hoen, Peter A. C.
|
Steyaert, Wouter
|
de Voer, Richarda
|
Kamsteeg, Erik-Jan
|
van de Warrenburg, Bart
|
van Os, Nienke
|
Paske, Iris te
|
Janssen, Erik
|
de Boer, Elke
|
Steehouwer, Marloes
|
Neveling, Kornelia
|
van der Sanden, Bart
|
Sagath, Lydia
|
Kleefstra, Tjitske
|
Brookes, Anthony J.
|
Gibson, Spencer
|
Riaz, Umar
|
Warren, Greg
|
Nalagandla, Sai Anuhya
|
Wang, Yunze Patrick
|
Sukumaran, Deepthi
|
Abadijou, Sadegh
|
Straub, Volker
|
Bettolo, Chiara Marini
|
Manera, Jordi Diaz
|
Hambleton, Sophie
|
Engelhardt, Karin
|
Clayton-Smith, Jill
|
Banka, Siddharth
|
Alexander, Elizabeth
|
Jackson, Adam
|
Faivre, Laurence
|
Thauvin, Christel
|
Vitobello, Antonio
|
Denommé-Pichon, Anne-Sophie
|
Duffourd, Yannis
|
Bruel, Ange-Line
|
Couturier, Victor
|
Gut, Ivo Glynne
|
Piscia, Davide
|
Matalonga, Leslie
|
Papakonstantinou, Anastasios
|
Corvo, Alberto
|
Fernandez-Callejo, Marcos
|
Hernández, Carles
|
Picó, Daniel
|
Codina, Anna Esteve
|
Dabad, Marc
|
Gut, Marta
|
Raineri, Emanuele
|
Gumus, Gulcin
|
Bros-Facer, Virginie
|
Rath, Ana
|
Hanauer, Marc
|
Lagorce, David
|
Hongnat, Oscar
|
Chahdil, Maroua
|
Lucano, Caterina
|
Lebreton, Emeline
|
Stevanin, Giovanni
|
Durr, Alexandra
|
Davoine, Claire-Sophie
|
Guillot-Noel, Léna
|
Heinzmann, Anna
|
Coarelli, Giulia
|
Bonne, Gisèle
|
Evangelista, Teresinha
|
Allamand, Valérie
|
Nelson, Isabelle
|
Ben Yaou, Rabah
|
Metay, Corinne
|
Eymard, Bruno
|
Cohen, Enzo
|
Atalaia, Antonio
|
Stojkovic, Tanya
|
Macek, Milan
|
Turnovec, Marek
|
Thomasová, Dana
|
Kremliková, Radka Pourová
|
Franková, Vera
|
Havlovicová, Markéta
|
Ryba, Lukáš
|
Lišková, Petra
|
Doležalová, Pavla
|
Krebsová, Alice
|
Parkinson, Helen
|
Keane, Thomas
|
Freeberg, Mallory
|
Thomas, Coline
|
Spalding, Dylan
|
Robinson, Peter
|
Danis, Daniel
|
Robert, Glenn
|
Costa, Alessia
|
Hanna, Mike
|
Houlden, Henry
|
Reilly, Mary
|
Vandrovcova, Jana
|
Efthymiou, Stephanie
|
Morsy, Heba
|
Cali, Elisa
|
Magrinelli, Francesca
|
Sisodiya, Sanjay M.
|
Bellampalli, Ravishankara
|
Moloney, Patrick
|
Rohrer, Jonathan
|
Muntoni, Francesco
|
Zaharieva, Irina
|
Sarkozy, Anna
|
Perry, Luke
|
Pini, Veronica
|
Müller, Juliane
|
Timmerman, Vincent
|
Baets, Jonathan
|
de Vries, Geert
|
De Winter, Jonathan
|
de Jonghe, Peter
|
Van de Vondel, Liedewei
|
De Ridder, Willem
|
Weckhuysen, Sarah
|
Stamberger, Hannah
|
Millevert, Charissa
|
Smal, Noor
|
Nigro, Vincenzo
|
Morleo, Manuela
|
Pinelli, Michele
|
Banfi, Sandro
|
Torella, Annalaura
|
Zeuli, Roberta
|
Zanobio, Mariateresa
|
Piluso, Giulio
|
Ferlini, Alessandra
|
Selvatici, Rita
|
Gualandi, Francesca
|
Bigoni, Stefania
|
Neri, Marcella
|
Aretz, Stefan
|
Spier, Isabel
|
Sommer, Anna Katharina
|
Peters, Sophia
|
Barbosa-Matos, Rita
|
José, Celina São
|
Ferreira, Marta
|
Gullo, Irene
|
Fernandes, Susana
|
Garrido, Luzia
|
Ferreira, Pedro
|
Carneiro, Fátima
|
Swertz, Morris A.
|
van der Velde, Joeri K.
|
van der Vries, Gerben
|
Neerincx, Pieter B.
|
Roelofs-Prins, Dieuwke
|
Ruvolo, David
|
van Gijn, Marielle
|
Abbott, Kristin M.
|
Kerstjens Frederikse, Wilhemina S.
|
Zonneveld-Huijssoon, Eveline
|
Köhler, Sebastian
|
Metcalfe, Alison
|
Moore, Richard
|
Verloes, Alain
|
Drunat, Séverine
|
Heron, Delphine
|
Mignot, Cyril
|
Keren, Boris
|
de Sainte Agathe, Jean-Madeleine
|
Jamra, Rami Abou
|
Abramowicz, Marc
|
Kiliçarslan, Özge Aksel
|
Allen, Nicholas
|
Javier Alonso García de la Rosa, Francisco
|
Balestrini, Simona
|
Balicza, Peter
|
Bartolomaeus, Tobias
|
Başak, Ayşe Nazl
|
Masó, Laura Batlle
|
Beeson, David
|
Benoit, Valerie
|
Benson, Katherine
|
Sánchez, Eva Bermejo
|
Bijlsma, Emilia K.
|
Bogaert, Elke
|
Bourbouli, Mara
|
Boztug, Kaan
|
Brohée, Sylvain
|
Byrne, Susan
|
Garcia de Oteyza, Andrés Caballero
|
Capella, Gabriel
|
Carpancea, Evelina
|
Cavalleri, Gianpiero
|
Cazurro-Gutiérrez, Ana
|
Chinnery, Patrick F.
|
Cilio, Maria-Roberta
|
Ciolfi, Andrea
|
Claeys, Kristl
|
Colobran, Roger
|
Cordts, Isabell
|
Cossins, Judith
|
Dahan, Karin
|
Dallapiccola, Bruno
|
Delanty, Norman
|
Depienne, Christel
|
Depondt, Chantal
|
Dermaut, Bart
|
Deschauer, Marcus
|
Desir, Julie
|
Destrée, Anne
|
Drakos, Minas
|
Duerinckx, Sarah
|
Estevez, Berta
|
Evangeliou, Athanasios
|
Fallerini, Chiara
|
Ferilli, Marco
|
Furini, Simone
|
Gagneur, Julien
|
Ghani, Hamidah
|
Greally, Marie
|
Grimbacher, Bodo
|
Guerrini, Renzo
|
Hackman, Peter
|
Haimel, Matthias
|
Bouveret, Eva Hammar
|
Hemelsoet, Dimitri
|
Herzog, Rebecca
|
Hoffer, Mariette J. V.
|
Holinski-Feder, Elke
|
Horvath, Rita
|
Huibers, Manon
|
Iacomino, Michele
|
Johari, Mridul
|
Kapaki, Elisabeth
|
Karadurmus, Deniz
|
Karakaya, Mert
|
Kokosali, Evgenia
|
Korff, Christian
|
Krass, Leon
|
Lacombe, Didier
|
Laner, Andreas
|
Leavis, Helen
|
Lederer, Damien
|
Leitão, Elsa
|
Lochmüller, Hanns
|
Martín, Estrella López
|
Luknárová, Rebeka
|
Macaya, Alfons
|
Malaichamy, Sivasankar
|
Marcé-Grau, Anna
|
Delgado, Beatriz Martínez
|
Mary, Sandrine
|
Masclaux, Frédéric
|
Mathioudakis, Lambros
|
Maver, Ales
|
May, Patrick
|
Maystadt, Isabelle
|
Mei, Davide
|
Mertes, Christian
|
Meunier, Colombine
|
Molnar, Maria Judit
|
Monestier, Olivier
|
Moortgat, Stéphanie
|
Münchau, Alexander
|
Munell, Francina
|
Osorio, Andrés Nascimento
|
de Benito, Daniel Natera
|
Reghan, Mary O.
|
Olimpio, Catarina
|
Parrini, Elena
|
Pauly, Martje
|
Pérez-Dueñas, Belén
|
Peterlin, Borut
|
Platzer, Konrad
|
Polavarapu, Kiran
|
Poppe, Bruce
|
De la Paz, Manuel Posada
|
Privitera, Flavia
|
Radio, Francesca Clementina
|
Ratnaike, Thiloka
|
Renieri, Alessandra
|
Riva, Antonella
|
Rooryck, Caroline
|
Roos, Andreas
|
Ruivenkamp, Claudia A. L.
|
Rump, Andreas
|
Santen, Gijs W. E.
|
Savarese, Marco
|
Scala, Marcello
|
Schon, Katherine
|
Schröck, Evelin
|
Scudieri, Paolo
|
Spilioti, Martha
|
Steinke-Lange, Verena
|
Striano, Pasquale
|
Sznajer, Yves
|
Tartaglia, Marco
|
Thompson, Rachel
|
Trimouille, Aurelien
|
Udd, Bjarne
|
Uva, Paolo
|
Valle, Laura
|
van der Veken, Lars
|
van Heurck, Roxane
|
van Montfrans, Joris
|
Van Nieuwenhove, Erika
|
Verdin, Hannah
|
Webb, David
|
Wirth, Brunhilde
|
Yépez, Vicente A.
|
Zaganas, Ioannis
|
Zara, Federico
|
Zguro, Kristina
|
Laurie, Steven
2024
http://purl.org/ontology/bibo/Article
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
2024 .
Schoser, Benedikt
|
Kishnani, Priya S.
|
Bratkovic, Drago
|
Byrne, Barry J.
|
Claeys, Kristl G.
|
Díaz-Manera, Jordi
|
Laforêt, Pascal
|
Roberts, Mark
|
Toscano, Antonio
|
van der Ploeg, Ans T.
|
Castelli, Jeff
|
Goldman, Mitchell
|
Holdbrook, Fred
|
Sitaraman Das, Sheela
|
Wasfi, Yasmine
|
Mozaffar, Tahseen
|
the ATB200-07 Study Group
|
Sebok, Agnes
|
Pestronk, Alan
|
Dominovic-Kovacevic, Aleksandra
|
Khan, Aneal
|
Koritnik, Blaž
|
Tard, Celine
|
Lindberg, Christopher
|
Quinn, Colin
|
Eldridge, Crystal
|
Bodkin, Cynthia
|
Reyes-Leiva, David
|
Hughes, Derralynn
|
Stefanescu, Ela
|
Salort-Campana, Emmanuelle
|
Butler, Ernest
|
Bouhour, Francoise
|
Kim, Gee
|
Papadimas, George Konstantinos
|
Parenti, Giancarlo
|
Bartosik-Psujek, Halina
|
Kushlaf, Hani
|
Akihiro, Hashiguchi
|
Lau, Heather
|
Pedro, Helio
|
Andersen, Henning
|
Amartino, Hernan
|
Shiraishi, Hideaki
|
Kobayashi, Hiroshi
|
Tarnev, Ivaylo
|
Vengoechea, Jaime
|
Avelar, Jennifer
|
Shin, Jin-Hong
|
Nevin, John
|
Cauci, Jonathan
|
Alonso-Pérez, Jorge
|
Janszky, Jozsef
|
Berthy, Julie
|
Kornblum, Cornelia
|
Gutschmidt, Kristina
|
Molnar, Maria Judit
|
Wencel, Marie
|
Tarnopolsky, Mark
|
Boentert, Matthias
|
Tchan, Michel
|
Freimer, Miriam
|
Longo, Nicola
|
Abreu, Nicolas
|
Vidal-Fernandez, Nuria
|
Musumeci, Olimpia
|
Goker-Alpan, Ozlem
|
Deegan, Patrick
|
Clemens, Paula R.
|
Roxburgh, Richard
|
Henderson, Robert
|
Hopkin, Robert
|
Sacconi, Sabrina
|
Fecarotta, Simona
|
Attarian, Shahram
|
Wenninger, Stephan
|
Dearmey, Stephanie
|
Hiwot, Tarekegn
|
Burrow, Thomas
|
Ruck, Tobias
|
Sawada, Tomo
|
Laszlo, Vescei
|
Löscher, Wolfgang
|
Chien, Yin-Hsiu
2024
http://purl.org/ontology/bibo/Article
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 .
Vissers, Lisenka
|
Schüle, Rebecca
|
Synofzik, Matthis
|
Töpf, Ana
|
Gilissen, Christian
|
Ossowski, Stephan
|
't Hoen, Peter
|
Schulze-Hentrich, Julia M.
|
Riess, Olaf
|
Brunner, Han G.
|
Brookes, Anthony
|
Rath, Ana
|
Bonne, Gisèle
|
hoogerbrugge, nicoline
|
Evangelista, Teresinha
|
Harmuth, Tina
|
Swertz, Morris
|
Spalding, John Dylan
|
Hoischen, Alexander
|
Graessner, Holm
|
Haack, Tobias B.
|
Zurek, Birte
|
Ellwanger, Kornelia
|
Demidov, German
|
Sturm, Marc
|
Kessler, Christoph
|
Wayand, Melanie
|
Wilke, Carlo
|
Traschütz, Andreas
|
Schöls, Ludger
|
Hengel, Holger
|
Heutink, Peter
|
Brunner, Han
|
Scheffer, Hans
|
Steyaert, Wouter
|
Sablauskas, Karolis
|
de Voer, Richarda M.
|
Kamsteeg, Erik-Jan
|
van de Warrenburg, Bart
|
van Os, Nienke
|
te Paske, Iris
|
Janssen, Erik
|
de Boer, Elke
|
Steehouwer, Marloes
|
Yaldiz, Burcu
|
Kleefstra, Tjitske
|
Veal, Colin
|
Gibson, Spencer
|
Wadsley, Marc
|
Mehtarizadeh, Mehdi
|
Riaz, Umar
|
Warren, Greg
|
Dizjikan, Farid Yavari
|
Shorter, Thomas
|
Straub, Volker
|
Bettolo, Chiara Marini
|
Specht, Sabine
|
Clayton-Smith, Jill
|
Banka, Siddharth
|
Alexander, Elizabeth
|
Jackson, Adam
|
Faivre, Laurence
|
Thauvin, Christel
|
Vitobello, Antonio
|
Denommé-Pichon, Anne-Sophie
|
Duffourd, Yannis
|
Tisserant, Emilie
|
Bruel, Ange-Line
|
Peyron, Christine
|
Pélissier, Aurore
|
Beltran, Sergi
|
Gut, Ivo Glynne
|
Laurie, Steven
|
Piscia, Davide
|
Matalonga, Leslie
|
Papakonstantinou, Anastasios
|
Bullich, Gemma
|
Corvo, Alberto
|
Garcia, Carles
|
Fernandez-Callejo, Marcos
|
Hernández, Carles
|
Picó, Daniel
|
Paramonov, Ida
|
Gumus, Gulcin
|
Bros-Facer, Virginie
|
Hanauer, Marc
|
Olry, Annie
|
Lagorce, David
|
Havrylenko, Svitlana
|
Izem, Katia
|
Rigour, Fanny
|
Stevanin, Giovanni
|
Durr, Alexandra
|
Davoine, Claire-Sophie
|
Guillot-Noel, Léna
|
Heinzmann, Anna
|
Coarelli, Giulia
|
Allamand, Valérie
|
Nelson, Isabelle
|
Yaou, Rabah Ben
|
Metay, Corinne
|
Eymard, Bruno
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Laner, Andreas
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Ferlini, Alessandra
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Selvatici, Rita
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Rossi, Rachele
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Aretz, Stefan
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Spier, Isabel
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Oliveira, Carla
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Matos, Ana Rita
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José, Celina São
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Ferreira, Marta
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Gullo, Irene
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Fernandes, Susana
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Garrido, Luzia
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Ferreira, Pedro
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Carneiro, Fátima
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Varavallo, Alessandra
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Pauly, Martje
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Macaya, Alfons
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Marcé-Grau, Anna
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de Benito, Daniel Natera
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Lochmüller, Hanns
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Thompson, Rachel
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Polavarapu, Kiran
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Beeson, David
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Cossins, Judith
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Cruz, Pedro M. Rodriguez
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Hackman, Peter
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Johari, Mridul
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Savarese, Marco
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Udd, Bjarne
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Horvath, Rita
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Capella, Gabriel
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Valle, Laura
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Holinski-Feder, Elke
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Laner, Andreas
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Steinke-Lange, Verena
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Schröck, Evelin
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Rump, Andreas
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http://purl.org/ontology/bibo/Article