Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients
Palma Milla, Carmen, Lezana Rosales, José Miguel, López Montiel, Javier, Andrés Garrido, Lucas David, Sánchez Linares, Carlos, Carmona Tamajón, Sandra, Torres Fernández, Carmen, Sánchez González, Pablo, Franco Freire, Sara, Benito López, Carmen, López Siles, Juan
Published in Annals of human genetics (01.11.2018)
Published in Annals of human genetics (01.11.2018)
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Transient Neonatal Zinc Deficiency Due to a New Autosomal Dominant Mutation in Gene SLC30A2 (ZnT-2)
Lova Navarro, Miguel, Vera Casaño, Ángel, Benito López, Carmen, Fernández Ballesteros, María D., Godoy Díaz, Daniel J., Crespo Erchiga, Antonio, Romero Brufau, Santiago
Published in Pediatric dermatology (01.03.2014)
Published in Pediatric dermatology (01.03.2014)
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Journal Article
Transient Neonatal Zinc Deficiency Due to a New Autosomal Dominant Mutation in Gene SLC 30A2 (ZnT‐2)
Lova Navarro, Miguel, Vera Casaño, Ángel, Benito López, Carmen, Fernández Ballesteros, María D., Godoy Díaz, Daniel J., Crespo Erchiga, Antonio, Romero Brufau, Santiago
Published in Pediatric dermatology (01.03.2014)
Published in Pediatric dermatology (01.03.2014)
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Correlación genotipo-fenotipo en miocardiopatía hipertrófica: un estudio multicéntrico en Portugal y España sobre la variante p.Arg21Leu de TPM1
Lamounier Junior, Arsonval, Guitián González, Alba, Rodríguez Vilela, Alejandro, Repáraz Andrade, Alfredo, Rubio Alcaide, Álvaro, Berta Sousa, Ana, Benito López, Carmen, Alonso García, Diego, Fernández Ferro, Germán, Cruz, Inês, Cárdenas Reyes, Ivonne Johana, Salazar-Mendiguchía García, Joel, Larrañaga-Moreira, José María, Ochoa, Juan Pablo, Palomino-Doza, Julián, de la Higuera Romero, Luis, Nicolás Cicerchia, Marcos, Restrepo Córdoba, María Alejandra, Peña-Peña, María Luisa, Noël Brögger, Maria, Loureiro, Marilia, Mogollón Jiménez, María Victoria, Bilbao Quesada, Raquel, Franco Gutiérrez, Raúl, García Hernández, Soledad, Ripoll-Vera, Tomás, Fernández, Xusto, Azevedo, Olga, García Pavía, Pablo, Lopes, Luis R., Ortiz, Martín, Brito, Dulce, Barriales-Villa, Roberto, Monserrat Iglesias, Lorenzo
Published in Revista española de cardiologia (01.03.2022)
Published in Revista española de cardiologia (01.03.2022)
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen
Published in Scientific reports (15.01.2021)
Published in Scientific reports (15.01.2021)
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Journal Article
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen
Published in Scientific reports (10.05.2021)
Published in Scientific reports (10.05.2021)
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Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant
Lamounier Junior, Arsonval, Guitián González, Alba, Rodríguez Vilela, Alejandro, Repáraz Andrade, Alfredo, Rubio Alcaide, Álvaro, Berta Sousa, Ana, Benito López, Carmen, Alonso García, Diego, Fernández Ferro, Germán, Cruz, Inês, Cárdenas Reyes, Ivonne Johana, Salazar-Mendiguchía García, Joel, Larrañaga-Moreira, José María, Ochoa, Juan Pablo, Palomino-Doza, Julián, de la Higuera Romero, Luis, Nicolás Cicerchia, Marcos, Restrepo Córdoba, María Alejandra, Peña-Peña, María Luisa, Noël Brögger, Maria, Loureiro, Marilia, Mogollón Jiménez, María Victoria, Bilbao Quesada, Raquel, Franco Gutiérrez, Raúl, García Hernández, Soledad, Ripoll-Vera, Tomás, Fernández, Xusto, Azevedo, Olga, García Pavía, Pablo, Lopes, Luis R., Ortiz, Martín, Brito, Dulce, Barriales-Villa, Roberto, Monserrat Iglesias, Lorenzo
Published in Revista española de cardiología (English ed.) (01.03.2022)
Published in Revista española de cardiología (English ed.) (01.03.2022)
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