Browsing by Author Rodríguez Revenga, Laia

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Showing results 1 to 4 of 4
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
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
Oct-2022Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1Muñoz, Esteban; Jodar, Meritxell; Guerrero, Jairo; Compta, Yaroslau; Perissinotti, Andrés; Álvarez Mora, María Isabel; Falgàs Martínez, Neus; Rodríguez Revenga, Laia; Sánchez del Valle Díaz, Raquel