Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies by Jana Domínguez Carral, Carola Reinhard, Carola Reinhard, Darius Ebrahimi-Fakhari, Nathalie Dorison, Serena Galosi, Giacomo Garone, Giacomo Garone, Masa Malenica, Claudia Ravelli, Esra Serdaroglu, Laura A. van de Pol, Laura A. van de Pol, Anne Koy, Vincenzo Leuzzi, Agathe Roubertie, Jean-Pierre Lin, Jean-Pierre Lin, Diane Doummar, Laura Cif, Laura Cif, Laura Cif, Juan Darío Ortigoza-Escobar, Juan Darío Ortigoza-Escobar, Juan Darío Ortigoza-Escobar

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P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus by Zain Awamleh, Sanaa Choufani, Dmitrijs Rots, Alexander Dingemans, Juan Dario Ortigoza Escobar, David Koolen, Bert de Vries, Rosanna Weksberg

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Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol by Carmen Martín-Gómez, Juan Dario Ortigoza-Escobar, Laia Nou-Fontanet, Juan M. Molina-Linde, Anne-Catherine Bachoud-Lévi, Juliane Léger, Juan Antonio Blasco-Amaro

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Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1 by Jiraporn Ousingsawat, Khaoula Talbi, Hilario Gómez-Martín, Anne Koy, Alberto Fernández-Jaén, Hasan Tekgül, Esra Serdaroğlu, Juan Darío Ortigoza-Escobar, Rainer Schreiber, Karl Kunzelmann

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Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report by Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Darío Ortigoza‐Escobar

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Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol. by Carmen Martín-Gómez, Juan Dario Ortigoza-Escobar, Laia Nou-Fontanet, Juan M Molina-Linde, Anne-Catherine Bachoud-Lévi, Juliane Léger, Juan Antonio Blasco-Amaro, NKX2-1-Related Disorders Guideline Working Group

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Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up. by Beatriz Carmona-Hidalgo, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia Nou-Fontanet, José C Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Darío Ortigoza-Escobar, NKX2-1-Related Disorders Guideline Working Group

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Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis. by Beatriz Carmona-Hidalgo, Carmen Martín-Gómez, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia-Nou Fontanet, José C Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Dario-Ortigoza-Escobar, NKX2-1-Related Disorders Guideline Working Group

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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaResearch in context by Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J.A. van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger Schöls, Holger Lerche, Rikke S. Møller, Yuanyuan Liu

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals by Julián Nevado, Julián Nevado, Julián Nevado, Sixto García-Miñaúr, Sixto García-Miñaúr, Sixto García-Miñaúr, María Palomares-Bralo, María Palomares-Bralo, María Palomares-Bralo, Elena Vallespín, Elena Vallespín, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, Cristina Bel-Fenellós, María Ángeles Mori, María Ángeles Mori, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Jair Antonio Tenorio, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Elena Mansilla, Elena Mansilla, Isabel Vallcorba, Isabel Vallcorba, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia

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