Browsing by Author Borrell, Antoni

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)
14-Jan-2021A new stepwise molecular work-up after chorionic villi sampling in women with an early pregnancy lossPauta, Montse; Badenas Orquin, Celia; Rodríguez Revenga, Laia; Soler, Anna; Grande, Maribel; Sabrià Bach, Joan; Illanes, Carmen; Borobio, Virginia; Borrell, Antoni
1-Jan-2024A novel NONO nonsense variant in a fetus with renal abnormalitiesRodríguez Revenga, Laia; Nadal Serra, Alfons; Borobio, Virginia; Álvarez Mora, María Isabel; Madrigal Bajo, Irene; Pauta, Montse; Borrell, Antoni
4-Mar-2023Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysisPauta, Montse; Martínez Portilla, Raigam J.; Meler Barrabés, Eva; Otaño, Juan; Borrell, Antoni
1-Dec-2022Diagnostic Yield of Exome Sequencing in Fetuses With Multisystem Malformations: Systematic Review and Meta-analysisPauta, Montse; Martínez Portilla, Raigam J.; Borrell, Antoni
21-Jun-2022Lethal congenital contracture syndrome 11: A case report and literature reviewPotrony Mateu, Míriam; Borrell, Antoni; Masoller Casas, Narcís; Nadal Serra, Alfons; Rodriguez-Carunchio, Leonardo; Saez de Gordoa Elizalde, Karmele; Quesada Espinosa, Juan Francisco; Villanueva Cañas, Jose Luis; Pauta, Montse; Jodar Bifet, Meritxell; Madrigal Bajo, Irene; Badenas Orquin, Celia; Álvarez Mora, María Isabel; Rodríguez Revenga, Laia
1-Sep-2023Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non-placental originPaz y Miño, Fernanda; Pauta, Montse; Meler Barrabés, Eva; Matas, Isabel; Mazarico Gallego, Edurne; Camacho, Araceli; Segura, Maria; Figueras, Francesc; Borrell, Antoni
30-Sep-2021The Contribution of QF-PCR and pathology studies in the diagnosis of diandric triploidy/partial moleBenítez, Leticia; Pauta, Montse; Badenas Orquin, Celia; Madrigal Bajo, Irene; Nadal Serra, Alfons; Marimon, Edda; Borrell, Antoni