Resultados da busca - Annet Simons

Report of two cases of snRNA gene RNU4-2 related syndromic intellectual disability from Southeast Asia por Jeannette Goh, Jiin Ying Lim, Annet Simons, Lisa Ewans, Sylvia Kam, Jasmine Goh, Jing Xian Teo, Sock Hoai Chan, Shermaine Chan, Simon Ling, Terrence Thomas, Gavin Tan, Weng Khong Lim, Angeline Lai, Saumya Shekhar Jamuar

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P537: First report of two cases of ReNU (RENU) syndrome from Southeast Asia por Jeannette Goh, Saumya Jamuar, Jiin Ying Lim, Annet Simons, Lisa Ewans, Sylvia Kam, Weng Khong Lim, Jing Xian Teo, Sock Hoai Chan, Simon Ling, Terrence Thomas, Angeline Lai, Jasmine Chew Yin Goh, Shermaine Chan, Gavin Tan

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Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study por Sterre P.E. Willems, Annet Simons, Joline L. Saes, Marjan Weiss, Sanna Rijpma, Selene Schoormans, Karina Meijer, Marjon H. Cnossen, Roger E.G. Schutgens, Nick van Es, Laurens Nieuwenhuizen, Paul L. den Exter, Ilmar C. Kruis, Nicole M.A. Blijlevens, Waander L. van Heerde, Saskia E.M. Schols

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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease por Abderrahim Marouane, Abderrahim Marouane, Kornelia Neveling, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers, Lisenka E. L. M. Vissers

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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 por Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming

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