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Damaging variants in FOXI3 cause microtia and craniofacial microsomia Quiat, Daniel; Timberlake, Andrew T.; Curran, Justin J.; Cunningham, Michael L.; McDonough, Barbara; Artunduaga, Maria A.; DePalma, Steven R.; Duenas-Roque, Milagros M.; Gorham, Joshua M.; Gustafson, Jonas A.; Hamdan, Usama; V. Hing, Anne; Hurtado-Villa, Paula; Nicolau, Yamileth; Osorno, Gabriel; Pachajoa, Harry; Porras-Hurtado, Gloria L.; Quintanilla-Dieck, Lourdes; Serrano, Luis; Tumblin, Melissa; Zarante, Ignacio; V. Luquetti, Daniela; Eavey, Roland D.; Heike, Carrie L.; Seidman, Jonathan G.; Seidman, Christine E. 分享 收藏
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions Aranda, Carolina Sanchez; Aun, Marcelo Vivolo; Moura de Souza, Carolina Fischinger; de Camargo Pinto, Louise Lapagesse; Liliana Porras-Hurtado, Gloria; Sierra Salgado, Omar Francisco; Arantes, Rodrigo Rezende; Martins, Ana Maria; Sole, Dirceu 分享 收藏
Haploinsufficiency of SF3B2 causes craniofacial microsomia Timberlake, Andrew T.; Griffin, Casey; Heike, Carrie L.; Hing, Anne V.; Cunningham, Michael L.; Chitayat, David; Davis, Mark R.; Doust, Soghra J.; Drake, Amelia F.; Duenas-Roque, Milagros M.; Goldblatt, Jack; Gustafson, Jonas A.; Hurtado-Villa, Paula; Johns, Alexis; Karp, Natalya; Laing, Nigel G.; Magee, Leanne; Mullegama, Sureni V.; Pachajoa, Harry; Porras-Hurtado, Gloria L.; Schnur, Rhonda E.; Slee, Jennie; Singer, Steven L.; Staffenberg, David A.; Timms, Andrew E.; Wise, Cheryl A.; Zarante, Ignacio; Saint-Jeannet, Jean-Pierre; Luquetti, Daniela V. 分享 收藏
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Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features Zaki, Maha S.; Accogli, Andrea; Mirzaa, Ghayda; Rahman, Fatima; Mohammed, Hiba; Porras-Hurtado, Gloria Liliana; Efthymiou, Stephanie; Maqbool, Shazia; Shukla, Anju; Vincent, John B.; Hussain, Abrar; Mir, Asif; Beetz, Christian; Leubauer, Anika; Houlden, Henry; Gleeson, Joseph G.; Maroofian, Reza 分享 收藏
OPCML is hypermethylated in a subset of patients with metaplastic changes in their esophagus Castano-Rodriguez, Natalia; Popple, Georgia L.; Liliana Porras-Hurtado, Gloria; Luis Cardona-Deazza, Jose; Jose Montoya-Martinez, Juan; Javier Cadavid-Velez, Antonio; William Toro-Hidalgo, Hector; Ruth Cobo-Alvarado, Alba; del Socorro Hincapie-Rincon, Ofelia; Riordan, Stephen M.; Kaakoush, Nadeem O. 分享 收藏