| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | oct-2020 | Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy | Caño-Ochoa, Francisco del CSIC ORCID; Ng, Bobby G.; Abedalthagafi, Malak; Almannai, Mohammed; Cohn, Ronald D.; Costain, Gregory; Elpeleg, Orly; Houlden, Henry; Karimiani, Ehsan Ghayoor; Liu, Pengfei; Manzini, M Chiara; Maroofian, Reza; Muriello, Michael; Al-Otaibi, Ali; Patel, Hema; Shimon, Edvardson; Sutton, V. Reid; Toosi, Mehran Beiraghi; Wolfe, Lynne A.; Rosenfeld, Jill A.; Freeze, Hudson H.; Ramón-Maiques, Santiago CSIC ORCID | artículo |
| openAccess |  | 2023 | Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder | Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish; Rahman, Fatima; Zaki, Maha S.; Maqbool, Shazia; Anwa, Najwa; Ruiz-Pérez, Victor L. CSIC ORCID; Yanovsky-Dagan, Shira; Elpeleg, Orly; Sudhakar, Sniya; Mankad, Kshitij; Harel, Tamar; Houlden, Henry | artículo |
| openAccess |  | 21-ago-2020 | Expanding the clinical and genetic spectrum of PCYT2-related disorders | Vélez-Santamaría, Valentina; Ventura, Edgar; Macmurdo, Colleen; Planas-Serra, Laura; Schlüter, Agatha; Casas, Josefina CSIC ORCID ; Martínez, Juan José; Casasnovas, Carlos; Si, Yue; Thompson, Stephanie S.; Maroofian, Reza; Pujol, Aurora | artículo |
| openAccess | | 11-jul-2023 | Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders | Gracia-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, Naiara | artículo |
