CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain
Maortua, Hiart, Martínez-Bouzas, Cristina, Calvo, María-Teresa, Domingo, Maria-Rosario, Ramos, Feliciano, García-Ribes, Ainhoa, Martínez, María-Jesús, López-Aríztegui, María-Asunción, Puente, Nerea, Rubio, Izaskun, Tejada, María-Isabel
Published in BMC genetics (06.08.2012)
Published in BMC genetics (06.08.2012)
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Journal Article
Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer
Rubio, Izaskun, Ibáñez-Feijoo, Eduardo, Andrés, Leire, Aguirre, Elena, Balmaña, Judith, Blay, Pilar, Llort, Gemma, González-Santiago, Santiago, Maortua, Hiart, Tejada, Maria Isabel, Martinez-Bouzas, Cristina
Published in Oncology (01.01.2016)
Published in Oncology (01.01.2016)
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Journal Article
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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Journal Article
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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Journal Article
Cistoadenoma hepatobiliar y elevación progresiva del marcador tumoral CA 19.9
Rubio Ollo, Izaskun, Prieto Valtuille, Cristina, Arza Ruesga, Arantza, García de Vicuña, Amaia, Pérez Garay, Raquel, Rueda Gutiérrez, Miguel, López-Urrutia Fernández, Antonio
Published in Revista del laboratorio clínico (2010)
Published in Revista del laboratorio clínico (2010)
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