A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism
Tejada, María‐Isabel, Elcoroaristizabal, Xabier, Ibarluzea, Nekane, Botella, María‐Pilar, de la Hoz, Ana‐Belén, Ocio, Intzane
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males)
Maortua, Hiart, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Martínez, María-Jesus, Guillen, Encarna, Domingo, María-Rosario, Calvo, María-Teresa, Guitart, Miriam, Gabau, Elisabeth, Botella, María-Pilar, Gener, Blanca, Rubio, Izaskun, López-Aríztegui, María-Asunción, Tejada, María-Isabel
Published in The Journal of molecular diagnostics : JMD (01.09.2013)
Published in The Journal of molecular diagnostics : JMD (01.09.2013)
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Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
Codina-Solà, Marta, Rodríguez-Santiago, Benjamín, Homs, Aïda, Santoyo, Javier, Rigau, Maria, Aznar-Laín, Gemma, Del Campo, Miguel, Gener, Blanca, Gabau, Elisabeth, Botella, María Pilar, Gutiérrez-Arumí, Armand, Antiñolo, Guillermo, Pérez-Jurado, Luis Alberto, Cuscó, Ivon
Published in Molecular autism (15.04.2015)
Published in Molecular autism (15.04.2015)
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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, von Bernuth, Horst
Published in Journal of clinical immunology (01.02.2015)
Published in Journal of clinical immunology (01.02.2015)
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MECP2 Gene Study in a Large Cohort
Maortua, Hiart, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Martínez, María-Jesus, Guillen, Encarna, Domingo, María-Rosario, Calvo, María-Teresa, Guitart, Miriam, Gabau, Elisabeth, Botella, María-Pilar, Gener, Blanca, Rubio, Izaskun, López-Aríztegui, María-Asunción, Tejada, María-Isabel
Published in The Journal of molecular diagnostics : JMD (01.09.2013)
Published in The Journal of molecular diagnostics : JMD (01.09.2013)
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Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature
Vasudevan, Pradeep C, Garcia-Minaur, Sixto, Botella, Maria Pilar, Perez-Aytes, Antonio, Shannon, Nora L, Quarrell, Oliver W J
Published in Clinical dysmorphology (01.07.2005)
Published in Clinical dysmorphology (01.07.2005)
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