학술논문
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'학술논문'
에서 검색결과 258건 | 목록
1~20
Academic Journal
Grobe-Einsler, Marcus; Borel, Stéphanie; Buchholz, Maresa; Sayah, Sabrina; Hilab, Rania; Pierron, Lucie; Iskandar, Audrey; Humphries, Brittany; Ewenczyk, Claire; Heinzmann, Anna; Atencio, Mariana; Feldmann, Katrin; Maas, Vivian; Faber, Jennifer; Boesch, Sylvia; Indelicato, Elisabetta; Reetz, Kathrin; Schulz, Jörg B.; Bischoff, Almut T.; Klopstock, Thomas; Schöls, Ludger; Minnerop, Martina; Timmann, Dagmar; Davies, Elin H.; Klockgether, Thomas; Durr, Alexandra; Xie, Feng; Michalowsky, Bernhard
The Lancet Regional Health - Europe. 61
Academic Journal
Petit, Emilien; López Domínguez, Daniel; Marelli, Cecilia; Sayah, Sabrina; Pulst, Stefan; Faber, Jennifer; Oz, Gulin; Paulson, Henry; Ashizawa, Tetsuo; Tezenas Du Montcel, Sophie; Durr, Alexandra; Coarelli, Giulia; Ewenczyk, Claire; Heinzmann, Anna; Lallemant, Pauline; Heide, Solveig; Charles, Perrine; Cunha, Paulina; Hurmic, Hortense; Klockgether, Thomas; Grobe-Einsler, Marcus; Oender, Demet; Kimmich, Okka; Roy, Nina; Giordano, Ilaria; Purrer, Veronika; Miklitz, Carolin; Mccormick, Cornelia; Olubajo, Titilayo; Burns, Matthew; Hawkins, Trevor; Bushara, Khalaf; Perlman, Susan; Subramony, S; Morgan, David; Jackman, Brianna; Seeberger, Lauren; Kern, Drew; Wilmot, George; Scorr, Laura; Rosenthal, Liana; Onyike, Chiadi; Geschwind, Michael; Nelson, Alexandra; Dietiker, Cameron; Moughamian, Armen; Kuo, Sheng-Han; Shakkottai, Vikram; Gomez, Christopher; Padmanaban, Mahesh; Yacoubian, Talene; Dean, Marissa; Schmahmann, Jeremy; Nopoulos, Peggy; Killoran, Annie; Opal, Puneet; Zesiewicz, Theresa; Sha, Sharon; Santini, Veronica; Sampson, Jacinda; Morrison, Peter; Augustine, Erika; Paciorkowski, Alex
Neurology
Neurology 105(5), e213980 (2025). doi:10.1212/WNL.0000000000213980
Neurology 105(5), e213980 (2025). doi:10.1212/WNL.0000000000213980
Academic Journal
Rive Le Gouard, Nicolas; G. Bah, Maissa; Coarelli, Giulia; Heinzmann, Anna; Fauret, Anne‐laure; de Sainte-Agathe, Jean‐madeleine; Cazeneuve, Cécile; Gerasimenko, Anna; Gras, Domitille; Capri, Yline; Renaud, Mathilde; Brais, Bernard; Grenenko, Cecile; Masurel, Alice; Berquin, Patrick; Jobic, Florence; Métreau, Julia; Deiva, Kumaran; Afenjar, Alexandra; Gravrand, Victor; Lannuzel, Annie; Anheim, Mathieu; Geis, Tobias; Hehr, Ute; Madan Cohen, Jennifer; Desnous, Béatrice; J. A. Kievit, Anneke; Bahi-Buisson, Nadia; Rodriguez, Diana; Renaldo, Florence; Cances, Claude; Devos, David; Angelini, Chloé; Goizet, Cyril; Ewenczyk, Claire; Durr, Alexandra; Mignot, Cyril
Eur J Neurol
Academic Journal
M’Zahem, Abderrahim; Goldenberg, Alice; Bolocan, Anamaria; Gerdelat, Angélique; Heinzmann, Anna; Grapperon, Aude-Marie; Riou, Audrey; Carlander, Bertrand; Chabrol, Brigitte; Simon-Bouy, Brigitte; Moulard, Bruno; Taris, Caroline Espil; Gire, Catherine; vanHulle, Catherine; Yardin, Catherine; Thauvin-Robinet, Christel; Coubes, Christine; De Barace, Claire; Desnuelles, Claude; Mignard, Claude; Adams, David; Doummar, Diane; Baudou, Eloïse; Roze, Emmanuel; Boutin, Emmanuelle; Demurger, Florence; Audic, Frédérique; Payet, Frédérique; Nicolas, Gaël; Sole, Guilhem; Taieb, Guillaume; Chaabouni, Habiba; Ranjatoelina, Hanitra; Ion, Ioana; Pouget, Jean; Pedespan, Jean-Michel; N’Guyen, Karine; van Maldergem, Lionel; Guyant-Maréchal, Lucie; Jacquemont, Marie-Line; Monin, Marie-Lorraine; Hardy, Maxime; Cintas, Pascal; Sabouraud, Pascal; Aubourg, Patrick; Calvas, Patrick; Collignon, Patrick; Casenave, Philippe; Debs, Rabab; Thummler, Susanne; Fenu, Sylvia; Stojkovic, Tanja; Rouaud, Tiphaine; Gioiosa, Valeria; Trommsdorff, Valérie; Gonzales, Victoria; Ferrer, Xavier; Matoussi, Zied; Benkirane, Mehdi ; Marelli, Cecilia ; Choumert, Ariane ; Goizet, Cyril ; Patat, Olivier ; Ewenczyk, Claire ; Anheim, Mathieu ; Mégarbané, André ; Larrieu, Lise ; Charlin, Cyril ; Ory-Magne, Fabienne ; Chaussenot, Annabelle ; Fradin, Mélanie ; Guissart, Claire ; Pointaux, Morgane ; Cossée, Mireille ; Vincent, Marie-Claire ; Bergougnoux, Anne ; Hersent, Clément ; Bareil, Corinne ; Roubertie, Agathe ; Fluchère, Frédérique ; Renaud, Mathilde ; Kremer, Laurent ; Tranchant, Christine ; Attarian, Shahram ; Odent, Sylvie ; Laugel, Vincent ; Walther-Louvier, Ulrike ; Desnous, Beatrice ; Bieth, Eric ; Husson, Isabelle ; Azulay, Jean Phillipe ; Rivier, François ; Doray, Bérénice ; Durr, Alexandra ; Aouinti, Safa ; Molinari, Nicolas ; Koenig, Michel
In Genetics in Medicine December 2025 27(12)
Academic Journal
Di Folco, Cécile; Dubec-Fleury, Charlotte; Traschütz, Andreas; Kessler, Christoph; Reich, Selina; Gagnon, Cynthia; Lessard, Isabelle; Rodrigue, Xavier; Cocozza, Sirio; Satolli, Sara; Santorelli, Filippo M; Durr, Alexandra; Heinzmann, Anna; van de Warrenburg, Bart P; Willemse, Ilse HJ; Başak, A Nazli; Vural, Atay; Brais, Bernard; Klebe, Stephan; Horvath, Rita; PROSPAX Consortium; Schüle, Rebecca; Synofzik, Matthis; Tezenas du Montcel, Sophie
Movement Disorders.
Academic Journal
Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; Sablauskas, Karolis; Ellwanger, Kornelia; Neveling, Kornelia; Abbott, Kristin M.; Faivre, Laurence; Guillot-Noel, Léna; Johansson, Lennart; Schütz, Leon; Matalonga, Leslie; Van de Vondel, Liedewei; Vissers, Lisenka E.L.M.; Schöls, Ludger; Ryba, Lukáš; Perry, Luke; Garrido, Luzia; Sagath, Lydia; Freeberg, Mallory; Morleo, Manuela; Dabad, Marc; Hanauer, Marc; Sturm, Marc; Neri, Marcella; Fernandez-Callejo, Marcos; Turnovec, Marek; Zanobio, Mariateresa; van Gijn, Marielle; Havlovicová, Markéta; Steehouwer, Marloes; Chahdil, Maroua; Ferreira, Marta; Gut, Marta; Reilly, Mary; Synofzik, Matthis; Kellner, Melanie; Pinelli, Michele; Hanna, Mike; Macek, Milan, Jr.; Swertz, Morris A.; Hoogerbrugge, Nicoline; van Os, Nienke; Smal, Noor; Riess, Olaf; Hongnat, Oscar; Moloney, Patrick; Doležalová, Pavla; Ferreira, Pedro; ’t Hoen, Peter A.C.; de Jonghe, Peter; Heutink, Peter; Robinson, Peter; Lišková, Petra; Neerincx, Pieter B.; Ben Yaou, Rabah; Kremliková, Radka Pourová; Bellampalli, Ravishankara; Schüle, Rebecca; Moore, Richard; de Voer, Richarda M.; Barbosa-Matos, Rita; Selvatici, Rita; Lauerer-Braun, Robert; Zeuli, Roberta; Abadijou, Sadegh; Nalagandla, Sai Anuhya; Banfi, Sandro; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Köhler, Sebastian; Beltran, Sergi; Drunat, Séverine; Banka, Siddharth; Peters, Sophia; Hambleton, Sophie; Gibson, Spencer; Aretz, Stefan; Bigoni, Stefania; Lauxmann, Stephan; Ossowski, Stephan; Efthymiou, Stephanie; Laurie, Steven; Fernandes, Susana; Stojkovic, Tanya; Evangelista, Teresinha; Keane, Thomas; Kleefstra, Tjitske; Haack, Tobias B.; Riaz, Umar; Allamand, Valérie; Franková, Vera; Pini, Veronica; Couturier, Victor; Timmerman, Vincent; Nigro, Vincenzo; Bros-Facer, Virginie; Straub, Volker; Kerstjens Frederikse, Wilhemina S.; De Ridder, Willem; Steyaert, Wouter; Duffourd, Yannis; Wang, Yunze Patrick; Maver, Ales; Renieri, Alessandra; Münchau, Alexander; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Ciolfi, Andrea; Laner, Andreas; Roos, Andreas; Rump, Andreas; Garcia de Oteyza, Andrés Caballero; Osorio, Andrés Nascimento; Marcé-Grau, Anna; Destrée, Anne; Riva, Antonella; Evangeliou, Athanasios; Trimouille, Aurelien; Başak, Ayşe Nazlı; Dermaut, Bart; Delgado, Beatriz Martínez; Pérez-Dueñas, Belén; Estevez, Berta; Udd, Bjarne; Grimbacher, Bodo; Peterlin, Borut; Poppe, Bruce; Wirth, Brunhilde; Dallapiccola, Bruno; Rooryck, Caroline; Olimpio, Catarina; Depondt, Chantal; Fallerini, Chiara; Depienne, Christel; Korff, Christian; Mertes, Christian; Ruivenkamp, Claudia A.L.; Meunier, Colombine; Lederer, Damien; Natera de Benito, Daniel; Beeson, David; Webb, David; Mei, Davide; Karadurmus, Deniz; Lacombe, Didier; Hemelsoet, Dimitri; Parrini, Elena; Kapaki, Elisabeth; Bogaert, Elke; Holinski-Feder, Elke; Leitão, Elsa; Bijlsma, Emilia K.; Van Nieuwenhove, Erika; Martín, Estrella López; Sánchez, Eva Bermejo; Bouveret, Eva Hammar; Schröck, Evelin; Carpancea, Evelina; Kokosali, Evgenia; Zara, Federico; Privitera, Flavia; Radio, Francesca Clementina; Munell, Francina; Alonso García de la Rosa, Francisco Javier; Masclaux, Frédéric; Capella, Gabriel; Cavalleri, Gianpiero; Santen, Gijs W.E.; Ghani, Hamidah; Verdin, Hannah; Lochmüller, Hanns; Leavis, Helen; Zaganas, Ioannis; Cordts, Isabell; Maystadt, Isabelle; van Montfrans, Joris; Cossins, Judith; Desir, Julie; Gagneur, Julien; Boztug, Kaan; Dahan, Karin; Benson, Katherine; Schon, Katherine; Lohmann, Katja; Polavarapu, Kiran; Platzer, Konrad; Zguro, Kristina; Claeys, Kristl; Mathioudakis, Lambros; van der Veken, Lars; Masó, Laura Batlle; Valle, Laura; Krass, Leon; Huibers, Manon; De la Paz, Manuel Posada; Bourbouli, Mara; Abramowicz, Marc; Scala, Marcello; Ferilli, Marco; Savarese, Marco; Tartaglia, Marco; Deschauer, Marcus; Molnar, Maria Judit; Cilio, Maria-Roberta; Greally, Marie; Hoffer, Mariette J.V.; Spilioti, Martha; Pauly, Martje; O'Reghan, Mary; Haimel, Matthias; Karakaya, Mert; Iacomino, Michele; Drakos, Minas; Johari, Mridul; Allen, Nicholas; Schuermans, Nika; Delanty, Norman; Monestier, Olivier; Kiliçarslan, Özge Aksel; Scudieri, Paolo; Uva, Paolo; Striano, Pasquale; Chinnery, Patrick F.; May, Patrick; Balicza, Peter; Hackman, Peter; Thompson, Rachel; Jamra, Rami Abou; Herzog, Rebecca; Luknárová, Rebeka; Guerrini, Renzo; Horvath, Rita; Colobran, Roger; van Heurck, Roxane; Mary, Sandrine; Duerinckx, Sarah; Balestrini, Simona; Furini, Simone; Malaichamy, Sivasankar; Moortgat, Stéphanie; Byrne, Susan; Brohée, Sylvain; Ratnaike, Thiloka; Bartolomaeus, Tobias; Benoit, Valerie; Steinke-Lange, Verena; Yépez, Vicente A.; Sznajer, Yves; Di Feo, Maria Francesca ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.
In Genetics in Medicine November 2025
Academic Journal
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A J; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Van de Warrenburg, Bart; Schöls, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra
The American journal of human genetics 110(7), 1098-1109 (2023). doi:10.1016/j.ajhg.2023.05.009
American Journal of Human Genetics, 110, 7, pp. 1098-1109
The American Journal of Human Genetics
American Journal of Human Genetics, 110, 7, pp. 1098-1109
The American Journal of Human Genetics
Academic Journal
Cristina Sin; Orlanda Tavares; Elina Apsite-Berina; Judith Borràs; Betül Bulut-Sahin; Martina Chrančoková; Karolina Czerska-Shaw; Anne Marie Devlin; Sybille Heinzmann; Suvi Jokila; Anita Kéri; Ivana Lešević; Annarita Magliacane; Anna Nicolaou; Neslihan Onder-Ozdemir; Adriana Perez-Encinas; Natassa Raikou; Maria Victoria Soule; Deimantas Valančiūnas; Ana Iolanda Voda; Merve Zayim-Kurtay
Comparative Migration Studies, Vol 13, Iss 1, Pp 1-21 (2025)
Academic Journal
Méreaux, Jean-Loup ; Davoine, Claire-Sophie ; Pellerin, David ; Coarelli, Giulia ; Coutelier, Marie ; Ewenczyk, Claire ; Monin, Marie-Lorraine ; Anheim, Mathieu ; Le Ber, Isabelle ; Thobois, Stéphane ; Gobert, Florent ; Guillot-Noël, Léna ; Forlani, Sylvie ; Jornea, Ludmila ; Heinzmann, Anna ; Sangare, Aude ; Gaymard, Bertrand ; Guyant-Maréchal, Lucie ; Charles, Perrine ; Marelli, Cecilia ; Honnorat, Jérôme ; Degos, Bertrand ; Tison, François ; Sangla, Sophie ; Simonetta-Moreau, Marion ; Salachas, François ; Tchikviladzé, Maya ; Castelnovo, Giovanni ; Mochel, Fanny ; Klebe, Stephan ; Castrioto, Anna ; Fenu, Silvia ; Méneret, Aurélie ; Bourdain, Frédéric ; Wandzel, Marion ; Roth, Virginie ; Bonnet, Céline ; Riant, Florence ; Stevanin, Giovanni ; Noël, Sandrine ; Fauret-Amsellem, Anne-Laure ; Bahlo, Melanie ; Lockhart, Paul J. ; Brais, Bernard ; Renaud, Mathilde ; Brice, Alexis ; Durr, Alexandra
In eBioMedicine January 2024 99
Academic Journal
Petit, Emilien; Schmitz-Hübsch, Tanja; Coarelli, Giulia; Jacobi, Heike; Heinzmann, Anna; Figueroa, Karla P.; Perlman, Susan L.; Gomez, Christopher M.; Wilmot, George R.; Schmahmann, Jeremy D.; Ying, Sarah H.; Zesiewicz, Theresa A.; Paulson, Henry L.; Shakkottai, Vikram G.; Bushara, Khalaf O.; Kuo, Sheng-Han; Geschwind, Michael D.; Xia, Guangbin; Pulst, Stefan M.; Subramony, S. H.; Ewenczyk, Claire; Brice, Alexis; Durr, Alexandra; Klockgether, Thomas; Ashizawa, Tetsuo; Tezenas du Montcel, Sophie
Journal of Neurology. 271(7):3743-3753
Academic Journal
Méreaux, Jean-Loup; Davoine, Claire-Sophie; Coutelier, Marie; Guillot-Noël, Léna; Castrioto, Anna; Charles, Perrine; Coarelli, Giulia; Ewenczyk, Claire; Klebe, Stephan; Heinzmann, Anna; Méneret, Aurélie; Fauret-Amsellem, Anne-Laure; de Sainte Agathe, Jean-Madeleine; Brice, Alexis; Durr, Alexandra
Journal of Medical Genetics. 60:717-721
Academic Journal
Kacher, Radhia ; Lejeune, François-Xavier ; David, Isabelle ; Boluda, Susana ; Coarelli, Giulia ; Leclere-Turbant, Sabrina ; Heinzmann, Anna ; Marelli, Cecilia ; Charles, Perrine ; Goizet, Cyril ; Kabir, Nisha ; Hilab, Rania ; Jornea, Ludmila ; Six, Julie ; Dommergues, Marc ; Fauret, Anne-Laure ; Brice, Alexis ; Humbert, Sandrine ; Durr, Alexandra
In The American Journal of Human Genetics 2 May 2024 111(5):913-926
Academic Journal
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In Human Genetics and Genomics Advances 13 April 2023 4(2)
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In Genetics in Medicine April 2023 25(4)
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European journal of human genetics 29(9), 1466-1469 (2021). doi:10.1038/s41431-021-00934-6
Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Correction to : Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1466-1469. https://doi.org/10.1038/s41431-021-00934-6
Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Correction to : Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1466-1469. https://doi.org/10.1038/s41431-021-00934-6
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In Annals of Physical and Rehabilitation Medicine September 2023 66(6)
Academic Journal
Matalonga, Leslie; Hernández-Ferrer, Carles; DITF-ITHACA, Solve-RD; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cohen, Enzo; DITF-euroNMD, Solve-RD; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G; Horvath, Rita; Houlden, Henry; Johari, Mridul; Lau, Jarred; Lochmüller, Hanns; DITF-RND, Solve-RD; Macken, William L; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D S; Polavarapu, Kiran; Cruz, Pedro M Rodriguez; Tonda, Raul; Sarkozy, Anna; Savarese, Marco; Selvatici, Rita; Thompson, Rachel; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Balicza, Peter; Laurie, Steven; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Fernandez-Callejo, Marcos; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle-Freyer, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; Picó, Daniel; van de Warrenburg, Bart; van Os, Nienke; Wayand, Melanie; Wilke, Carlo; Haack, Tobias B; Graessner, Holm; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Garcia-Linares, Carles; Sturm, Marc; Schulze-Hentrich, Julia M; Kessler, Christoph; Heutink, Peter; Brunner, Han; Scheffer, Hans; Papakonstantinou, Anastasios; Hoogerbrugge, Nicoline; 't Hoen, Peter A C; Steyaert, Wouter; Sablauskas, Karolis; Te Paske, Iris; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Corvó, Alberto; Brookes, Anthony J; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Piscia, Davide; Joshi, Ricky; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Duffourd, Yannis; Tisserant, Emilie; Diez, Hector; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Bullich, Gemma; Gut, Ivo; Corvo, Alberto; Garcia, Carles; Hernández, Carles; Paramonov, Ida; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hoischen, Alexander; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Consortia, Solve-RD; Spalding, Dylan; Senf, Alexander; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Reilly, Mary; Muntoni, Francesco; de Jonghe, Peter; Banfi, Sandro; Torella, Annalaura; Cuesta, Isabel; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B; group, Solve-RD SNV-indel working; Denommé-Pichon, Anne-Sophie; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F Javier Alonso García; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Molnar, Maria Judit; Gilissen, Christian; Herzog, Rebecca; Pauly, Martje; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Beeson, David; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Li, Shuang; Prasanth, Sivakumar; Robinson, Peter; van der Velde, Joeri K; de Voer, Richarda M; Evans, Gareth; Sommer, Anna Katharina; Töpf, Ana; Paske, Iris Te; Tischkowitz, Marc; Casari, Giorgio; Ciolfi, Andrea; Dallapiccola, Bruno; de Boer, Elke; Vissers, Lisenka E L M; Hammarsjö, Anna; Havlovicova, Marketa; Hugon, Anne; de Voer, Richarda; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; DITF-GENTURIS, Solve-RD; Posada, Manuel; Ryba, Lukas; Schwarz, Martin; Trimouille, Aurélien
Eur J Hum Genet
Repisalud
Instituto de Salud Carlos III (ISCIII)
European journal of human genetics 29(9), 1337-1347 (2021). doi:10.1038/s41431-021-00852-7
European Journal of Human Genetics, 29, 9, pp. 1337-1347
European journal of human genetics
Repisalud
Instituto de Salud Carlos III (ISCIII)
European journal of human genetics 29(9), 1337-1347 (2021). doi:10.1038/s41431-021-00852-7
European Journal of Human Genetics, 29, 9, pp. 1337-1347
European journal of human genetics
Academic Journal
Pierron, Lucie; Tezenas Du Montcel, Sophie; Heinzmann, Anna; Coarelli, Giulia; Héron, Delphine; Heide, Solveig; Herson, Ariane; Hennessy, Juliette; Petit, Elodie; Gargiulo, Marcela; Durr, Alexandra
Journal of Medical Genetics. 60:346-351
Academic Journal
Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; null, null; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Horvath, Rita; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; van de Warrenburg, Bart; van Os, Nienke; Vandrovcova, Jana; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 't Hoen, Peter A. C.; Vissers, Lisenka E. L. M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; 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; Gut, Ivo Glynne; Piscia, Davide; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Reilly, Mary; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Molnar, Maria Judit; Herzog, Rebecca; Pauly, Martje; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Cruz, Pedro M. Rodriguez; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas
Eur J Hum Genet
European journal of human genetics 29(9), 1332-1336 (2021). doi:10.1038/s41431-021-00901-1
European Journal of Human Genetics, 29, 9, pp. 1332-1336
Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Solving unsolved rare neurological diseases—a Solve-RD viewpoint', European Journal of Human Genetics, vol. 29, no. 9, pp. 1332-1336. https://doi.org/10.1038/s41431-021-00901-1
European journal of human genetics
European journal of human genetics 29(9), 1332-1336 (2021). doi:10.1038/s41431-021-00901-1
European Journal of Human Genetics, 29, 9, pp. 1332-1336
Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Solving unsolved rare neurological diseases—a Solve-RD viewpoint', European Journal of Human Genetics, vol. 29, no. 9, pp. 1332-1336. https://doi.org/10.1038/s41431-021-00901-1
European journal of human genetics
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