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	1.	Hereditary hypophosphatemic rickets with hypercalciuria: case report. [electronic resource] by Areses-Trapote, Ramón López-García, Juan A Ubetagoyena-Arrieta, Mercedes Eizaguirre, Antxon Sáez-Villaverde, Raquel Producer: 20121207 In: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism. [electronic resource] by De la Casa-Fages, Beatriz Fernández-Eulate, Gorka Gamez, Josep Barahona-Hernando, Raúl Morís, Germán García-Barcina, María Infante, Jon Zulaica, Miren Fernández-Pelayo, Uxoa Muñoz-Oreja, Mikel Urtasun, Miguel Olaskoaga, Ander Zelaya, Victoria Jericó, Ivonne Saez-Villaverde, Raquel Catalina, Irene Sola, Emma Martínez-Sáez, Elena Pujol, Aurora Ruiz, Montserrat Schlüter, Agatha Spinazzola, Antonella Muñoz-Blanco, Jose Luis Grandas, Francisco Holt, Ian Álvarez, Victoria López de Munaín, Adolfo Producer: 20200612 In: Movement disorders : official journal of the Movement Disorder Society vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion". [electronic resource] by De la Casa-Fages, Beatriz Fernández-Eulate, Gorka Gamez, Josep Barahona-Hernando, Raúl Morís, Germán García-Barcina, María Infante, Jon Zulaica, Miren Fernández-Pelayo, Uxoa Muñoz-Oreja, Mikel Urtasun, Miguel Olaskoaga, Ander Zelaya, Victoria Jericó, Ivonne Saez-Villaverde, Raquel Catalina, Irene Sola, Emma Martínez-Sáez, Elena Pujol, Aurora Ruiz, Montserrat Schlüter, Agatha Spinazzola, Antonella Muñoz-Blanco, Jose Luis Grandas, Francisco Holt, Ian Álvarez, Victoria López de Munaín, Adolfo Producer: 20200128 In: Movement disorders : official journal of the Movement Disorder Society vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. [electronic resource] by Currás-Freixes, Maria Inglada-Pérez, Lucía Mancikova, Veronika Montero-Conde, Cristina Letón, Rocío Comino-Méndez, Iñaki Apellániz-Ruiz, María Sánchez-Barroso, Lara Aguirre Sánchez-Covisa, Miguel Alcázar, Victoria Aller, Javier Álvarez-Escolá, Cristina Andía-Melero, Víctor M Azriel-Mira, Sharona Calatayud-Gutiérrez, María Díaz, José Ángel Díez-Hernández, Alberto Lamas-Oliveira, Cristina Marazuela, Mónica Matias-Guiu, Xavier Meoro-Avilés, Amparo Patiño-García, Ana Pedrinaci, Susana Riesco-Eizaguirre, Garcilaso Sábado-Álvarez, Constantino Sáez-Villaverde, Raquel Sainz de Los Terreros, Amaya Sanz Guadarrama, Óscar Sastre-Marcos, Julia Scolá-Yurrita, Bartolomé Segura-Huerta, Ángel Serrano-Corredor, Maria de la Soledad Villar-Vicente, María Rosa Rodríguez-Antona, Cristina Korpershoek, Esther Cascón, Alberto Robledo, Mercedes Producer: 20170118 In: Journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. [electronic resource] by Bogliolo, Massimo Pujol, Roser Aza-Carmona, Miriam Muñoz-Subirana, Núria Rodriguez-Santiago, Benjamin Casado, José Antonio Rio, Paula Bauser, Christopher Reina-Castillón, Judith Lopez-Sanchez, Marcos Gonzalez-Quereda, Lidia Gallano, Pia Catalá, Albert Ruiz-Llobet, Ana Badell, Isabel Diaz-Heredia, Cristina Hladun, Raquel Senent, Leonort Argiles, Bienvenida Bergua Burgues, Juan Miguel Bañez, Fatima Arrizabalaga, Beatriz López Almaraz, Ricardo Lopez, Monica Figuera, Ángela Molinés, Antonio Pérez de Soto, Inmaculada Hernando, Inés Muñoz, Juan Antonio Del Rosario Marin, Maria Balmaña, Judith Stjepanovic, Neda Carrasco, Estela Cuesta, Isabel Cosuelo, José Miguel Regueiro, Alexandra Moraleda Jimenez, José Galera-Miñarro, Ana Maria Rosiñol, Laura Carrió, Anna Beléndez-Bieler, Cristina Escudero Soto, Antonio Cela, Elena de la Mata, Gregorio Fernández-Delgado, Rafael Garcia-Pardos, Maria Carmen Sáez-Villaverde, Raquel Barragaño, Marta Portugal, Raquel Lendinez, Francisco Hernadez, Ines Vagace, José Manue Tapia, Maria Nieto, José Garcia, Marta Gonzalez, Macarena Vicho, Cristina Galvez, Eva Valiente, Alberto Antelo, Maria Luisa Ancliff, Phil Garcia, Francisco Dopazo, Joaquin Sevilla, Julian Paprotka, Tobias Pérez-Jurado, Luis Alberto Bueren, Juan Surralles, Jordi Producer: 20210204 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)