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Navegación por Autor Zaki, Maha S.
Mostrando resultados 1 a 3 de 3
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |
| closedAccess |  | 15-jun-2019 | Recessive mutations in muscle-specific isoforms of Fxr1 cause congenital multi-minicore myopathy | Estañ, María Cristina CSIC; Fernández-Núñez, Elisa CSIC; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. CSIC; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont, Gabriel; Regadera, Javier; Hernández-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; Carvajal, Jaime J. CSIC ORCID; Zong, Ruiting; Nelson, David L.; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Issa, Mahmoud; Bönnemann, Carsten G.; Lapunzina, Pablo; Yoon, Grace; Ruiz-Pérez, Victor L. CSIC ORCID | comunicación de congreso |
| openAccess |  | 2019 | Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy | Estañ, María Cristina CSIC; Fernández-Núñez, Elisa CSIC; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. CSIC; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont, Gabriel; Regadera, Javier; Hernández-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; Carvajal, Jaime J. CSIC ORCID; Zong, Ruiting; Nelson, David L.; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Issa, Mahmoud; Bönnemann, Carsten G.; Lapunzina, Pablo; Yoon, Grace; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
