OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population
Arruti, Natalia, Rodríguez-Solana, Patricia, Nieves-Moreno, María, Guerrero-Carretero, Marta, Del Pozo, Ángela, Montaño, Victoria E F, Santos-Simarro, Fernando, Rikeros-Orozco, Emi, Delgado-Mora, Luna, Vallespín, Elena, Noval, Susana
Published in Current issues in molecular biology (05.01.2023)
Published in Current issues in molecular biology (05.01.2023)
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Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
Boonsawat, Paranchai, Asadollahi, Reza, Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich, Rauch, Anita
Published in American journal of human genetics (05.09.2024)
Published in American journal of human genetics (05.09.2024)
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Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Martinez-Cayuelas, Elena, Blanco-Kelly, Fiona, Lopez-Grondona, Fermina, Swafiri, Saoud Tahsin, Lopez-Rodriguez, Rosario, Losada-Del Pozo, Rebeca, Mahillo-Fernandez, Ignacio, Moreno, Beatriz, Rodrigo-Moreno, Maria, Casas-Alba, Didac, Lopez-Gonzalez, Aitor, García-Miñaúr, Sixto, Ángeles Mori, Maria, Pacio-Minguez, Marta, Rikeros-Orozco, Emi, Santos-Simarro, Fernando, Cruz-Rojo, Jaime, Quesada-Espinosa, Juan Francisco, Sanchez-Calvin, Maria Teresa, Sanchez-del Pozo, Jaime, Bernado Fonz, Raquel, Isidoro-Garcia, Maria, Ruiz-Ayucar, Irene, Alvarez-Mora, Maria Isabel, Blanco-Lago, Raquel, De Azua, Begoña, Eiris, Jesus, Garcia-Peñas, Juan Jose, Gil-Fournier, Belen, Gomez-Lado, Carmen, Irazabal, Nadia, Lopez-Gonzalez, Vanessa, Madrigal, Irene, Malaga, Ignacio, Martinez-Menendez, Beatriz, Ramiro-Leon, Soraya, Garcia-Hoyos, Maria, Prieto-Matos, Pablo, Lopez-Pison, Javier, Aguilera-Albesa, Sergio, Alvarez, Sara, Fernández-Jaén, Alberto, Llano-Rivas, Isabel, Gener-Querol, Blanca, Ayuso, Carmen, Arteche-Lopez, Ana, Palomares-Bralo, Maria, Cueto-González, Anna, Valenzuela, Irene, Martinez-Monseny, Antonio, Lorda-Sanchez, Isabel, Almoguera, Berta
Published in Journal of medical genetics (01.07.2023)
Published in Journal of medical genetics (01.07.2023)
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Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus
González-Atienza, Carmen, Sánchez-Cazorla, Eloísa, Villoldo-Fernández, Natalia, del Hierro, Almudena, Boto, Ana, Guerrero-Carretero, Marta, Nieves-Moreno, María, Arruti, Natalia, Rodríguez-Solana, Patricia, Mena, Rocío, Rodríguez-Jiménez, Carmen, Rosa-Pérez, Irene, Acal, Juan Carlos, Blasco, Joana, Naranjo-Castresana, Marta, Ruz-Caracuel, Beatriz, Montaño, Victoria E. F, Ortega Patrón, Cristina, Rubio-Martín, M. Esther, García-Fernández, Laura, Rikeros-Orozco, Emi, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Noval, Susana, Vallespín, Elena
Published in Genes (22.09.2023)
Published in Genes (22.09.2023)
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