Browsing by Author Madrigal Bajo, Irene

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Issue DateTitleAuthor(s)
4-Nov-2019A genome-wide DNA methylation signature for SETD1B-related syndromeKrzyzewska, I. M.; Maas, S. M.; Henneman, Peter; Lip, K. V. D.; Venema, A.; Baranano, K.; Chassevent, A.; Aref-Eshghi, E.; Essen, A. J. van; Fukuda, T.; Ikeda, H.; Jacquemont, M.; Kim, H. G.; Labalme, Audrey; Lewis, S. M.; Lesca, Gaetan; Madrigal Bajo, Irene; Mahida, S.; Matsumoto, N.; Rabionet Janssen, Raquel; Rajcan-Separovic, E.; Qiao, Y.; Sadikovic, B.; Saitsu, H.; Sweetser, D. A.; Alders, M.; Mannens, M. M. A. M.
28-Mar-2008Caracterización de variantes genómicas. Aplicación de nuevas tecnologías al estudio del retraso mental.Madrigal Bajo, Irene
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
31-May-2018Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryKumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Luedecke, Hermann-Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gillespie, Meredith K.; Brady, Lauren; Tarnopolsky, Mark; Madrigal Bajo, Irene; Eiris, Jesus; Domenech Salgado, Laura; Rabionet Janssen, Raquel; Strom, Tim M.; Ishihara, Naoko; Inagaki, Hidehito; Kurahashi, Hiroki; Dudding-Byth, Tracy; Palmer, Elizabeth E.; Field, Michael; Gecz, Jozef
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