A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases von Bullich, Gemma, Domingo-Gallego, Andrea, Vargas, Iván, Ruiz, Patricia, Lorente-Grandoso, Laura, Furlano, Mónica, Fraga, Gloria, Madrid, Álvaro, Ariceta, Gema, Borregán, Mar, Piñero-Fernández, Juan Alberto, Rodríguez-Peña, Lidia, Ballesta-Martínez, Maria Juliana, Llano-Rivas, Isabel, Meñica, Mireia Aguirre, Ballarín, José, Torrents, David, Torra, Roser, Ars, Elisabet

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Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice von Mates, Jesus, Mademont-Soler, Irene, Del Olmo, Bernat, Ferrer-Costa, Carles, Coll, Monica, Pérez-Serra, Alexandra, Picó, Ferran, Allegue, Catarina, Fernandez-Falgueras, Anna, Álvarez, Patricia, Yotti, Raquel, Espinosa, Maria Angeles, Sarquella-Brugada, Georgia, Cesar, Sergi, Carro, Ester, Brugada, Josep, Arbelo, Elena, Garcia-Pavia, Pablo, Borregan, Mar, Tizzano, Eduardo, López-Granados, Amador, Mazuelos, Francisco, Díaz de Bustamante, Aranzazu, Darnaude, Maria Teresa, González-Hevia, José Ignacio, Díaz-Flores, Felícitas, Trujillo, Francisco, Iglesias, Anna, Fernandez-Aviles, Francisco, Campuzano, Oscar, Brugada, Ramon

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De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder von Hernando‐Davalillo, Cristina, Martín, Adrián Alcalá San, Borregan Prats, Mar, Ortigoza‐Escobar, Juan Darío

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Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease von Gago-Díaz, Marina, Blanco-Verea, Alejandro, Teixidó-Turà, Gisela, Valenzuela, Irene, Del Campo, Miguel, Borregan, Mar, Sobrino, Beatriz, Amigo, Jorge, García-Dorado, David, Evangelista, Artur, Carracedo, Ángel, Brion, María

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Expanding the Scope of Cinchona Alkaloid-Catalyzed Enantioselective α-Aminations of Oxindoles: A Versatile Approach to Optically Active 3-Amino-2-oxindole Derivatives von Bui, Tommy, Borregan, Mar, Barbas, Carlos F

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Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio von Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto

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Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases von Rovira‐Moreno, Eulàlia, Abuli, Anna, Codina‐Sola, Marta, Valenzuela, Irene, Serra‐Juhe, Clara, Cuscó, Ivon, Borregán, Mar, Cueto‐González, Anna, Vendrell, Teresa, López‐Grondona, Fermina, Brun‐Gasca, Carme, Brignani, Eduardo, Martínez‐Ribot, Laia, Garci‐Espejo, Regla, Cruz, Jordi, García‐Arumí, Elena, Tizzano, Eduardo F.

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Heterogeneity of aortic disease severity in patients with Loeys–Dietz syndrome von Teixidó-Tura, Gisela, Franken, Romy, Galuppo, Valentina, Gutiérrez García-Moreno, Laura, Borregan, Mar, Mulder, Barbara J M, García-Dorado, David, Evangelista, Artur

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Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction von Casas, Guillem, Limeres, Javier, Oristrell, Gerard, Gutierrez-Garcia, Laura, Andreini, Daniele, Borregan, Mar, Larranaga-Moreira, Jose M, Lopez-Sainz, Angela, Codina-Sola, Marta, Teixido-Tura, Gisela, Sorolla-Romero, Jose Antonio, Fernandez-Alvarez, Paula, Gonzalez-Carrillo, Josefa, Guala, Andrea, La Mura, Lucia, Soler-Fernandez, Rafaela, Sao Aviles, Augusto, Jose Santos-Mateo, Juan, Ramon Marsal, Josep, Ribera, Aida, Luis de la Pompa, Jose, Villacorta, Eduardo, Jimenez-Jaimez, Juan, Ripoll-Vera, Tomas, Bayes-Genis, Antoni, Manuel Garcia-Pinilla, Jose, Palomino-Doza, Julian, Tiron, Coloma, Pontone, Gianluca, Bogaert, Jan, Aquaro, Giovanni D, Ramon Gimeno-Blanes, Juan, Zorio, Esther, Garcia-Pavia, Pablo, Barriales-Villa, Roberto, Evangelista, Artur, Giorgio Masci, Pier, Ferreira-Gonzalez, Ignacio, Rodriguez-Palomares, Jose F

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Synthesis of β-chloro α-amino acids: (2 S,3 R)- and (2 S,3 S)-3-chloroleucine von Valls, Nativitat, Borregán, Mar, Bonjoch, Josep

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Synthesis of enantiopure cis-decahydroquinolines from homotyramines by Birch reduction and aminocyclization von Mena, Marisa, Valls, Nativitat, Borregán, Mar, Bonjoch, Josep

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Fischer indolization of octahydroindol-6-one derivatives revisited: diastereoisomerization and racemization processes von Borregán, Mar, Bradshaw, Ben, Valls, Nativitat, Bonjoch, Josep

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Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis von Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto

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Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis von Castells-Sarret, Neus, Cueto-González, Anna M., Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto

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A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region von Plaja, Alberto, Castells, Neus, Cueto-González, Anna M., del Campo, Miguel, Vendrell, Teresa, Lloveras, Elisabet, Izquierdo, Luis, Borregan, Mar, Rodríguez-Santiago, Benjamín, Carrió, Anna, Miró, Rosa, Tizzano, Eduardo

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Waardenburg syndrome von Luque-Luna, Mar, Borregan-Prats, Mar, Lianes, Javier Gil, Prat-Torres, Carolina

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Nonsyndromic Familial Aortic Disease: an Underdiagnosed Entity von Teixidó-Turà, Gisela, Valenzuela, Irene, Gutiérrez, Laura, Borregan, Mar, del Campo, Miguel, Evangelista, Artur

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Enfermedad aórtica familiar no sindrómica: una entidad infradiagnosticada von Teixidó-Turà, Gisela, Valenzuela, Irene, Gutiérrez, Laura, Borregan, Mar, del Campo, Miguel, Evangelista, Artur

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Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis von Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja

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ChemInform Abstract: Expanding the Scope of Cinchona Alkaloid-Catalyzed Enantioselective α-Aminations of Oxindoles: A Versatile Approach to Optically Active 3-Amino-2-oxindole Deri... von Bui, Tommy, Borregan, Mar, Barbas, Carlos F. III

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