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Humans [MeSH]
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(4)
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(4)
Cohort Studies [MeSH]
(3)
Whole Exome Sequencing/standards [MeSH]
(2)
Whole Exome Sequencing/methods [MeSH]
(2)
Viewpoint
(2)
Spinocerebellar ataxia
(2)
Spinocerebellar Ataxias/psychology [MeSH]
(2)
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(14)
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2024
(6)
2023
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2021
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2020
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Operations
Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
2024 .
Kneer, Katharina
|
Straub, Stephanie
|
Wittlinger, Julia
|
Stahl, Jan-Hendrik
|
Winter, Natalie
|
Timmann, Dagmar
|
Schöls, Ludger
|
Synofzik, Matthis
|
Bender, Friedemann
|
Grimm, Alexander
2024
http://purl.org/ontology/bibo/Article
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
2024 .
Schoenmakers, Daphne H.
|
Mochel, Fanny
|
Adang, Laura A.
|
Boelens, Jaap-Jan
|
Calbi, Valeria
|
Eklund, Erik A.
|
Grønborg, Sabine W.
|
Fumagalli, Francesca
|
Groeschel, Samuel
|
Lindemans, Caroline
|
Sevin, Caroline
|
Schöls, Ludger
|
Ram, Dipak
|
Zerem, Ayelet
|
Graessner, Holm
|
Wolf, Nicole Ingeborg
2024
http://purl.org/ontology/bibo/Article
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
2024 .
Schmitz, Anne S.
|
Raju, Janani
|
Köhler, Wolfgang
|
Klebe, Stephan
|
Cheheb, Khaled
|
Reschke, Franziska
|
Biskup, Saskia
|
Haack, Tobias B.
|
Roeben, Benjamin
|
Kellner, Melanie
|
Rahner, Nils
|
Bloch, Thomas
|
Lemke, Johannes
|
Bender, Benjamin
|
Schöls, Ludger
|
Hengel, Holger
|
Hayer, Stefanie Nicole
2024
http://purl.org/ontology/bibo/Article
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
2024 .
Graessner, Holm
|
Reinhard, Carola
|
Bäumer, Tobias
|
Baumgärtner, Annette
|
Brockmann, Knut
|
Brüggemann, Norbert
|
Bültmann, Eva
|
Erdmann, Jeanette
|
Heise, Kirstin
|
Höglinger, Günter
|
Hüning, Irina
|
Kaiser, Frank J.
|
Klein, Christine
|
Klopstock, Thomas
|
Krägeloh-Mann, Ingeborg
|
Kraemer, Markus
|
Luedtke, Kerstin
|
Mücke, Martin
|
Musacchio, Thomas
|
Nadke, Andreas
|
Osmanovic, Alma
|
Ritter, Gabriele
|
Röse, Katharina
|
Schippers, Christopher
|
Schöls, Ludger
|
Schüle, Rebecca
|
Schulz, Jörg B.
|
Sproß, Joachim
|
Stasch, Eveline
|
Wunderlich, Gilbert
|
Münchau, Alexander
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
Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia
2024 .
Weber, Niklas
|
Buchholz, Maresa
|
Rädke, Anika
|
Faber, Jennifer
|
Schmitz-Hübsch, Tanja
|
Jacobi, Heike
|
Klockgether, Thomas
|
Hoffmann, Wolfgang
|
Michalowsky, Bernhard
|
the EUROSCA study group
|
du Montcel, Sophie Tezenas
|
Bauer, Peter
|
Giunti, Paola
|
Cook, Arron
|
Labrum, Robyn
|
Parkinson, Michael H.
|
Durr, Alexandra
|
Brice, Alexis
|
Charles, Perrine
|
Marelli, Cecilia
|
Mariotti, Caterina
|
Nanetti, Lorenzo
|
Panzeri, Marta
|
Rakowicz, Maria
|
Sulek, Anna
|
Sobanska, Anna
|
Schöls, Ludger
|
Hengel, Holger
|
Baliko, Laszlo
|
Melegh, Bela
|
Filla, Alessandro
|
Antenora, Antonella
|
Infante, Jon
|
Berciano, José
|
van de Warrenburg, Bart P.
|
Timmann, Dagmar
|
Szymanski, Sandra
|
Boesch, Sylvia
|
Kang, Jun-Suk
|
Pandolfo, Massimo
|
Schulz, Jörg B.
|
Molho, Sonia
|
Diallo, Alhassane
|
the ESMI study group
|
Hübener-Schmid, Jeanette
|
Santana, Magda
|
Grobe-Einsler, Marcus
|
Koyak, Berkan
|
Raposo, Mafalda
|
Lima, Manuela
|
Garcia-Moreno, Hector
|
Giunti, Paola
|
Pereira de Almeida, Luís
|
van de Warrenburg, Bart
|
van Gaalen, Judith
|
Timmann, Dagmar
|
Thieme, Andreas
|
Reetz, Kathrin
|
Dogan, Imis
|
Wilke, Carlo
|
Schöls, Ludger
|
Riess, Olaf
|
Synofzik, Matthis
|
de Vries, Jeroen
|
Infante, Jon
|
Gulin, Oz
|
Joers, James
|
Onyike, Chiadikaobi
|
Povazan, Michal
|
Ratai, Eva-Maria
|
Schmahmann, Jeremy
2024
http://purl.org/ontology/bibo/Article
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
2023 .
Klockgether, Thomas
|
Synofzik, Matthis
|
AGI working group on COAs and Registries
|
Alhusaini, Saud
|
Anheim, Mathieu
|
Antonijevic, Irina
|
Ashizawa, Tee
|
Bataller, Luis
|
Berard, Mélanie
|
Bertini, Enrico
|
Boesch, Sylvia
|
Braga-Neto, Pedro
|
Cassou, Emanuel
|
Chan, Edwin
|
Chuang, Rosalind
|
Collins, Abbie
|
Damásio, Joana
|
Donis, Karina
|
Duquette, Antoine
|
Durães, João
|
Durr, Alexandra
|
Evans, Rebecca
|
Faber, Jennifer
|
Farmer, Jennifer
|
Gennarino, Vincenzo
|
Graessner, Holm
|
Grobe-Einsler, Marcus
|
Hanagasie, Hasmet
|
Heidari, Morteza
|
Houlden, Henry
|
Indelicato, Elisabetta
|
Ishikawa, Kinya
|
Jacobi, Heike
|
Jardim, Laura
|
Kisanuki, Yaz
|
Kopishinskaia, Svetlana
|
L ́Italien, Gilbert
|
Maas, Roderick
|
Mancuso, Michelangelo
|
Mariotti, Caterina
|
Ibrahim, Norlinah Mohamed
|
Nachbauer, Wolfgang
|
Nemeth, Andrea
|
Ng, Yi Shiau
|
Obieglo, Katja
|
Onodera, Osamu
|
Opal, Puneet
|
de Almeida, Luis Pereira
|
Perlman, Susan
|
Primiano, Guido
|
Renaud, Mathilde
|
Rosenthal, Liana
|
Saccà, Francesco
|
Sattar, Zahid
|
Schmitz-Hübsch, Tanja
|
Schöls, Ludger
|
Schüle, Rebecca
|
Seeberger, Lauren
|
Silvestri, Gabriella
|
Sobanska, Anna
|
Soong, Bin-Weng
|
Srivastava, Achal Kumar
|
Stoyas, Colleen
|
du Montcel, Sophie Tezenas
|
Thieme, Andreas
|
Timmann, Dagmar
|
Tocoian, Adina
|
Traschütz, Andreas
|
van de Warrenburg, Bart
|
Ziegler, Wolfram
2023
http://purl.org/ontology/bibo/Article
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L
2023 .
Buchholz, Maresa
|
Weber, Niklas
|
Rädke, Anika
|
Faber, Jennifer
|
Schmitz-Hübsch, Tanja
|
Jacobi, Heike
|
Xie, Feng
|
Klockgether, Thomas
|
Michalowsky, Bernhard
|
The EUROSCA study group
|
du Montcel, Sophie Tezenas
|
Bauer, Peter
|
Giunti, Paola
|
Cook, Arron
|
Labrum, Robyn
|
Parkinson, Michael H.
|
Durr, Alexandra
|
Brice, Alexis
|
Charles, Perrine
|
Marelli, Cecilia
|
Mariotti, Caterina
|
Nanetti, Lorenzo
|
Panzeri, Marta
|
Rakowicz, Maria
|
Sulek, Anna
|
Sobanska, Anna
|
Schöls, Ludger
|
Hengel, Holger
|
Baliko, Laszlo
|
Melegh, Bela
|
Filla, Alessandro
|
Antenora, Antonella
|
Infante, Jon
|
Berciano, José
|
van de Warrenburg, Bart P.
|
Timmann, Dagmar
|
Szymanski, Sandra
|
Boesch, Sylvia
|
Kang, Jun-Suk
|
Pandolfo, Massimo
|
Schulz, Jörg B.
|
Molho, Sonia
|
Diallo, Alhassane
|
The ESMI study group
|
Hübener-Schmid, Jeanette
|
Santana, Magda
|
Grobe-Einsler, Marcus
|
Koyak, Berkan
|
Raposo, Mafalda
|
Lima, Manuela
|
Garcia-Moreno, Hector
|
Giunti, Paola
|
de Almeida, Luís Pereira
|
van de Warrenburg, Bart
|
van Gaalen, Judith
|
Timmann, Dagmar
|
Thieme, Andreas
|
Reetz, Kathrin
|
Dogan, Imis
|
Wilke, Carlo
|
Schöls, Ludger
|
Riess, Olaf
|
Synofzik, Matthis
|
de Vries, Jeroen
|
Infante, Jon
|
Gulin, Oz
|
Joers, James
|
Onyike, Chiadikaobi
|
Povazan, Michal
|
Ratai, Eva-Maria
|
Schmahmann, Jeremy
2023
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Ashizawa, Tetsuo
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EUROSCA study group
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du Montcel, Sophie Tezenas
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Parkinson, Michael H.
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ESMI study group
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RISCA study group
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CRC-SCA study group
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Delgado, Beatriz Martínez
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Molnar, Maria Judit
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Maver, Ales
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Peterlin, Borut
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Lohmann, Katja
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Herzog, Rebecca
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Pauly, Martje
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Macaya, Alfons
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Marcé-Grau, Anna
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Osorio, Andres Nascimiento
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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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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
2021
http://purl.org/ontology/bibo/Article
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