by Segarra, Nuria Garcia, Ballhausen, Diana, Crawford, Heather, Perreau, Matthieu, Campos-Xavier, Belinda, van Spaendonck-Zwarts, Karin, Vermeer, Cees, Russo, Michel, Zambelli, Pierre-Yves, Stevenson, Brian, Royer-Bertrand, Beryl, Rivolta, Carlo, Candotti, Fabio, Unger, Sheila, Munier, Francis L., Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of medical genetics. Part A (01.12.2015)

by Bacci, Giacomo M., Donati, Maria A., Pasquini, Elisabetta, Munier, Francis, Cavicchi, Catia, Morrone, Amelia, Sodi, Andrea, Murro, Vittoria, Garcia Segarra, Nuria, Defilippi, Claudio, Bussolin, Leonardo, Caputo, Roberto
Published in Acta ophthalmologica (Oxford, England) (01.12.2017)

by Gschwind, Markus, Garcia Segarra, Nuria, Schaller, André, Bolognini, Ramona, Nuoffer, Jean‐Marc, Hourez, Raphael, Deprez, Manuel, Lhermitte, Benoit, Maeder, Philippe, Tran, Christel, Kuntzer, Thierry
Published in Annals of clinical and translational neurology (01.06.2022)

by Imbard, Apolline, Garcia Segarra, Nuria, Tardieu, Marine, Broué, Pierre, Bouchereau, Juliette, Pichard, Samia, de Baulny, Hélène Ogier, Slama, Abdelhamid, Mussini, Charlotte, Touati, Guy, Danjoux, Marie, Gaignard, Pauline, Vogel, Hannes, Labarthe, François, Schiff, Manuel, Benoist, Jean-François
Published in Molecular genetics and metabolism (01.04.2018)

by García Segarra, Nuria, Gautschi, Ivan, Mittaz-Crettol, Laureane, Kallay Zetchi, Christine, Al-Qusairi, Lama, Van Bemmelen, Miguel Xavier, Maeder, Philippe, Bonafé, Luisa, Schild, Laurent, Roulet-Perez, Eliane
Published in Journal of the neurological sciences (15.07.2014)

by Ivanyuk, Anton, García Segarra, Nuria, Buclin, Thierry, Klein, Andrea, Jacquier, David, Newman, Christopher J., Bloetzer, Clemens
Published in Neuromuscular disorders : NMD (01.10.2018)

by Imbard, Apolline, Toumazi, Artemis, Magréault, Sophie, Garcia-Segarra, Nuria, Schlemmer, Dimitri, Kaguelidou, Florentia, Perronneau, Isabelle, Haignere, Jérémie, de Baulny, Hélène Ogier, Kuster, Alice, Feillet, François, Alberti, Corinne, Guilmin-Crépon, Sophie, Benoist, Jean-François, Schiff, Manuel
Published in Orphanet journal of rare diseases (14.11.2022)

by Chakrapani, Anupam, Valayannopoulos, Vassili, Segarra, Nuria García, Del Toro, Mireia, Donati, Maria Alice, García-Cazorla, Angeles, González, María Julieta, Plisson, Celine, Giordano, Vincenzo
Published in Orphanet journal of rare diseases (20.06.2018)

by Garcia Segarra, Nuria, Mittaz, Laureane, Campos-Xavier, Ana Belinda, Bartels, Cynthia F., Tuysuz, Beyhan, Alanay, Yasemin, Cimaz, Rolando, Cormier-Daire, Valerie, Di Rocco, Maja, Duba, Hans-Christoph, Elcioglu, Nursel H., Forzano, Francesca, Hospach, Toni, Kilic, Esra, Kuemmerle-Deschner, Jasmin B., Mortier, Geert, Mrusek, Sonja, Nampoothiri, Sheela, Obersztyn, Ewa, Pauli, Richard M., Selicorni, Angelo, Tenconi, Romano, Unger, Sheila, Utine, G. Eda, Wright, Michael, Zabel, Bernhard, Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)

by Sass, Jörn Oliver, Gemperle-Britschgi, Corinne, Tarailo-Graovac, Maja, Patel, Nisha, Walter, Melanie, Jordanova, Albena, Alfadhel, Majid, Barić, Ivo, Çoker, Mahmut, Damli-Huber, Aynur, Faqeih, Eissa Ali, García Segarra, Nuria, Geraghty, Michael T., Jåtun, Bjørn Magne, Kalkan Uçar, Sema, Kriewitz, Merten, Rauchenzauner, Markus, Bilić, Karmen, Tournev, Ivailo, Till, Claudia, Sayson, Bryan, Beumer, Daniel, Ye, Cynthia Xin, Zhang, Lin-Hua, Vallance, Hilary, Alkuraya, Fowzan S., van Karnebeek, Clara D.M.
Published in Molecular genetics and metabolism (01.09.2016)

by Simon, Marleen, Campos-Xavier, Ana Belinda, Mittaz-Crettol, Lauréane, Valadares, Eugenia Ribeiro, Carvalho, Daniel, Speck-Martins, Carlos Eduardo, Nampoothiri, Sheela, Alanay, Yasemin, Mihci, Ercan, van Bever, Yolande, Garcia-Segarra, Nuria, Cavalcanti, Denise, Mortier, Geert, Bonafé, Luisa, Superti-Furga, Andrea
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)

by Lambrecht, Alix, Pichard, Samia, Maurey, Hélène, Segarra, Nuria Garcia, Drunat, Séverine, Acquaviva-Bourdain, Cécile, Passemard, Sandrine, Benoist, Jean-François, Fauret-Amsellem, Anne-Laure, Schiff, Manuel
Published in Molecular genetics and metabolism reports (01.06.2015)

by Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin
Published in Orphanet journal of rare diseases (01.08.2014)

by Tonduti, Davide, Panteghini, Celeste, Pichiecchio, Anna, Decio, Alice, Carecchio, Miryam, Reale, Chiara, Moroni, Isabella, Nardocci, Nardo, Campistol, Jaume, Garcia-Cazorla, Angela, Perez Duenas, Belen, Chiapparini, Luisa, Garavaglia, Barbara, Orcesi, Simona
Published in Orphanet journal of rare diseases (16.08.2018)

by SIMON, Marleen, CAMPOS-XAVIER, Ana Belinda, GARCIA-SEGARRA, Nuria, CAVALCANTI, Denise, MORTIER, Geert, BONAFE, Luisa, SUPERTI-FURGA, Andrea, MITTAZ-CRETTOL, Laureane, RIBEIRO VALADARES, Eugenia, CARVALHO, Daniel, EDUARDO SPECK-MARTINS, Carlos, NAMPOOTHIRI, Sheela, ALANAY, Yasemin, MIHCI, Ercan, VAN BEVER, Yolande
Published in American journal of medical genetics. Part C, Seminars in medical genetics (2012)

by GARCIA SEGARRA, Nuria, MITTAZ, Laureane, ELCIOGLU, Nursel H, FORZANO, Francesca, HOSPACH, Toni, KILIC, Esra, KUEMMERLE-DESCHNER, Jasmin B, MORTIER, Geert, MRUSEK, Sonja, NAMPOOTHIRI, Sheela, OBERSZTYN, Ewa, PAULI, Richard M, CAMPOS-XAVIER, Ana Belinda, SELICORNI, Angelo, TENCONI, Romano, UNGER, Sheila, UTINE, G. Eda, WIGHT, Michael, ABEL, Bernhardz, WARMAN, MatthewL, SUPERTI-FURGA, Andrea, BONAFE, Luisa, BARTELS, Cynthia F, TUYSUZ, Beyhan, ALANAY, Yasemin, CIMAZ, Rolando, CORMIER-DAIRE, Valerie, DI ROCCO, Maja, DUBA, Hans-Christoph
Published in American journal of medical genetics. Part C, Seminars in medical genetics (2012)

by Gschwind, Markus, Garcia Segarra, Nuria, Schaller, André, Bolognini, Ramona, Nuoffer, Jean-Marc, Hourez, Raphael, Deprez, Manuel, Lhermitte, Benoit, Maeder, Philippe, Tran, Christel, Kuntzer, Thierry
Published in Annals of clinical and translational neurology (01.06.2022)