Biomarkers in Vestibular Schwannoma–Associated Hearing Loss by Luis Lassaletta, Luis Lassaletta, Luis Lassaletta, Miryam Calvino, Miryam Calvino, Jose Manuel Morales-Puebla, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Lourdes Rodriguez-de la Rosa, Lourdes Rodriguez-de la Rosa, Lourdes Rodriguez-de la Rosa, Isabel Varela-Nieto, Isabel Varela-Nieto, Isabel Varela-Nieto, Victor Martinez-Glez, Victor Martinez-Glez, Victor Martinez-Glez

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Sirolimus Early Treatment in Vascular Anomalies Leads to a Better Response by Paloma Triana, Jesús Díez-Sebastián, Lara Rodriguez-Laguna, Victor Martinez-Glez, Juan Carlos Lopez-Gutierrez

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High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders by Nino Spataro, Juan Pablo Trujillo-Quintero, Carmen Manso, Elisabeth Gabau, Nuria Capdevila, Victor Martinez-Glez, Antoni Berenguer-Llergo, Sara Reyes, Anna Brunet, Neus Baena, Miriam Guitart, Anna Ruiz

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Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome by Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P. Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila, Anna Brunet-Vega, Neus Baena, A Arockia Jeyaprakash, A Arockia Jeyaprakash, Victor Martinez-Glez, Anna Ruiz

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New microdeletion and microduplication syndromes: a comprehensive review by Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina

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Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor. by Leila Cabral de Almeida Cardoso, Lara Rodriguez-Laguna, María Del Carmen Crespo, Elena Vallespín, María Palomares-Bralo, Rubén Martin-Arenas, Inmaculada Rueda-Arenas, Paulo Antonio Silvestre de Faria, GT-CSGP Working Group, Purificación García-Miguel, Pablo Lapunzina, Fernando Regla Vargas, Hector N Seuanez, Víctor Martínez-Glez

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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy by María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez

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Schuurs–Hoeijmakers Syndrome (<em>PACS1</em> Neurodevelopmental Disorder): Seven Novel Patients and a Review by Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina

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