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Published in Nature genetics (01.11.2004)
Published in Nature genetics (01.11.2004)
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LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy
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Published in Frontiers in immunology (16.10.2018)
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Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure
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Published in PloS one (17.10.2018)
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Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies
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A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
Lucia-Campos, Cristina, Valenzuela, Irene, Latorre-Pellicer, Ana, Ros-Pardo, David, Gil-Salvador, Marta, Arnedo, María, Puisac, Beatriz, Castells, Neus, Plaja, Alberto, Tenes, Anna, Cuscó, Ivon, Trujillano, Laura, Ramos, Feliciano J., Tizzano, Eduardo F., Gómez-Puertas, Paulino, Pié, Juan
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Published in Genes (08.08.2022)
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Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio
Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto
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TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6
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Published in Clinical immunology (Orlando, Fla.) (01.06.2018)
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16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency
Lasa-Aranzasti, Amaia, Cazurro-Gutiérrez, Ana, Bescós, Agustín, González, Victoria, Ispierto, Lourdes, Tardáguila, Manel, Valenzuela, Irene, Plaja, Alberto, Moreno-Galdó, Antonio, Macaya-Ruiz, Alfons, Pérez-Dueñas, Belen
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ZDHHC15 as a candidate gene for autism spectrum disorder
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Published in American journal of medical genetics. Part A (01.04.2023)
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Valenzuela, Irene, Fernández-Alvarez, Paula, Plaja, Alberto, Ariceta, Gema, Sabaté-Rotés, Anna, García-Arumí, Elena, Vendrell, Teresa, Tizzano, Eduardo
Published in European journal of medical genetics (01.05.2018)
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A Novel Intragenic Duplication in the IHDAC8/I Gene Underlying a Case of Cornelia de Lange Syndrome
Lucia-Campos, Cristina, Valenzuela, Irene, Latorre-Pellicer, Ana, Ros-Pardo, David, Gil-Salvador, Marta, Arnedo, María, Puisac, Beatriz, Castells, Neus, Plaja, Alberto, Tenes, Anna, Cuscó, Ivon, Trujillano, Laura, Ramos, Feliciano J, Tizzano, Eduardo F, Gómez-Puertas, Paulino, Pié, Juan
Published in Genes (01.08.2022)
Published in Genes (01.08.2022)
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Molecular characterization of Spanish patients with MECP2 duplication syndrome
Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
Armengol, Lluís, Nevado, Julián, Serra-Juhé, Clara, Plaja, Alberto, Mediano, Carmen, García-Santiago, Fe Amalia, García-Aragonés, Manel, Villa, Olaya, Mansilla, Elena, Preciado, Cristina, Fernández, Luis, Mori, María Ángeles, García-Pérez, Lidia, Lapunzina, Pablo Daniel, Pérez-Jurado, Luis Alberto
Published in Human genetics (01.03.2012)
Published in Human genetics (01.03.2012)
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Front Cover
Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, del Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, Del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis
Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto
Published in Anales de Pediatría (01.07.2018)
Published in Anales de Pediatría (01.07.2018)
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Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region
Barranco, Laura, Costa, Marta, Lloveras, Elisabet, Ordóñez, Elena, Maiz, Nerea, Hernando, Cristina, Villa, Olaya, Cirigliano, Vincenzo, Plaja, Alberto
Published in Cytogenetic and genome research (01.01.2015)
Published in Cytogenetic and genome research (01.01.2015)
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novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features
Neira, Vivian Alejandra, Romero-Espinoza, Pavel, Rojas-Martínez, Augusto, Ortiz-López, Rocío, Córdova-Fletes, Carlos, Plaja, Alberto, Barros-Núñez, Patricio
Published in Gene (2013)
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Published in Gene (2013)
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Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis
Castells-Sarret, Neus, Cueto-González, Anna M., Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto
Published in Anales de Pediatría (01.07.2018)
Published in Anales de Pediatría (01.07.2018)
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