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Navegación por Autor Rieubland, Claudine

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openAccessGómez-PuertasP_DelineationofPhenotypes.pdf.jpg19-mar-2020Delineation of phenotypes and genotypes related to cohesin structural protein RAD21Krabbe, Lianne C.; Marcos-Alcalde, Íñigo CSIC ORCID; Assafin, Melissa; Balasubramanian, Meena; Andersen, Janne B.; Bisgaard, Anne‑Marie; Fitzpatrick, David R.; Gudmundsson, Sanna; Huisman, Sylvia A.; Kalayci, Tugba; Maas, Saskia M.; Martínez, Francisco; Mckee, Shane; Menke, Leonie A.; Mulder, Paul A.; Murch, Oliver D.; Parker, Michael; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Rosenfeld Mokry, Jill A.; Scarano, Emanuela; Shinawi, Marwan; Gómez-Puertas, Paulino CSIC ORCID ; Tümer, Zeynep; Hennekam, Raoul C.artículo
openAccess11-jul-2023Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersGracia-Díaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; España-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel CSIC ORCID; Waxman, Elisa A.; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E.; Mark, Paul; Harr, Margaret H.; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa A.; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fátima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz H.; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle L.; Chassevent, Anna; Smith-Hicks, Constance L.; Cruz, Xavier de la CSIC ORCID; Holtz, Alexander M.; Elloumi, Houda Zghal; Hajianpour, M. J.; Rieubland, Claudine; Braun, Dominique; Banka, Siddharth; French, Deborah L.; Heller, Elizabeth A.; Saade, Murielle CSIC ORCID ; Song, Hongjun; Ming, Guo-Li; Alkuraya, Fowzan S.; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martínez-Balbás, Marian CSIC ORCID ; Akizu, Naiaraartículo