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Browsing by Author Otaify, Ghada A.

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RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2018FAM46A mutations are responsible for autosomal recessive osteogenesis imperfectaDoyard, Mathilde; Bacrot, Séverine; Huber, Céline; Di Rocco, Maja; Goldenberg, Alice; Aglan, Mona; Brunelle, Perrine; Temtamy, Samia; Michot, Caroline; Otaify, Ghada A.; Haudry, Coralie; Castanet, Mireille; Leroux, Julien; Bonnefont, Jean-Paul; Munnich, Arnold; Baujat, Geneviève; Lapunzina, Pablo; Monnot, Sophie; Ruiz-Pérez, Victor L. ; Cormier-Daire, Valérieartículo
openAccessmoleculaimperfec.pdf.jpg2017Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaCaparrós-Martín, José A. ; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A.; Valencia, María ; Nevado, Julian; Vallespin, Elena; Pozo, Angela del; Prior de Castro, Carmen; Calatrava-Ferreras, Lucia; Gutierrez, Pilar; Bueno, Ana M.; Sagastizabal, Belen; Guillén-Navarro, Encarna; Ballesta-Martinez, Maria; Gonzalez, Vanesa; Basaran, Sarenur Y.; Buyukoglan, Ruksan; Sarikepe, Bilge; Espinoza-Valdez, Cecilia; Cammarata-Scalisi, Francisco; Martinez-Glez, Víctor; Heath, Karen E.; Lapunzina, Pablo; Ruiz-Pérez, Victor L. artículo
closedAccessaccesoRestringido.pdf.jpg2018Mutaciones en FAM46A en un paciente con osteogénesis imperfectaRuiz-Pérez, Victor L. ; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A.; Lapunzina, Pablopóster de congreso
openAccessrecessmyopa.pdf.jpg2019Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathyEstañ, María Cristina ; Fernández-Núñez, Elisa; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. ; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont , Gabriel; Regadera, Javier; Hernandez-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; Carvajal, Jaime J. ; 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. artículo