Browsing by Author Madrigal Bajo, Irene
Showing results 1 to 6 of 6
| Issue Date | Title | Author(s) |
|---|---|---|
| 4-Nov-2019 | A genome-wide DNA methylation signature for SETD1B-related syndrome | Krzyzewska, 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. |
| 1-Jan-2024 | A novel NONO nonsense variant in a fetus with renal abnormalities | Rodríguez Revenga, Laia; Nadal Serra, Alfons; Borobio, Virginia; Álvarez Mora, María Isabel; Madrigal Bajo, Irene; Pauta, Montse; Borrell, Antoni |
| 28-Mar-2008 | Caracterización de variantes genómicas. Aplicación de nuevas tecnologías al estudio del retraso mental. | Madrigal Bajo, Irene |
| 21-Jun-2022 | Lethal congenital contracture syndrome 11: A case report and literature review | Potrony 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-2018 | Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery | Kumar, 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-2021 | The Contribution of QF-PCR and pathology studies in the diagnosis of diandric triploidy/partial mole | Benítez, Leticia; Pauta, Montse; Badenas Orquin, Celia; Madrigal Bajo, Irene; Nadal Serra, Alfons; Marimon, Edda; Borrell, Antoni |