Comentarios al art��culo "Ética e Investigación" Comments to the article "Ethics and Research" by Sergio Eduardo Gonorazky

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Comentarios al artículo "Ética e Investigación" by Sergio Eduardo Gonorazky

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Los principios éticos universales y su aplicación a los ensayos clínicos de medicamentos by Sergio Eduardo Gonorazky

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Case report: Hereditary sensory autonomic neuropathy presenting as bifid deformity to the tongue by Kelsey O’Hagan-Wong, Dana Smith, Hernan Gonorazky, Michael Casas

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Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review by Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg

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¿Es el cociente normalizado internacional un factor pronóstico de mortalidad en hemorragias intracerebrales? by L.D. Sousa, J.P. Zorrilla, M.F. Latini, P. Álvarez Abut, M. Ayala, L.M. Romano, S. Gonorazky, P. Ioli, L. Ricci

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Is the international normalised ratio a prognostic factor of mortality in intracerebral haemorrhage? by L.D. Sousa, J.P. Zorrilla, M.F. Latini, P. Álvarez Abut, M. Ayala, L.M. Romano, S. Gonorazky, P. Ioli, L. Ricci

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Minimally invasive treatment of chronic subdural haematoma in adults. Results in 116 patients by M.F. Latini, C.A. Fiore, L.M. Romano, E. Spadaro, J.P. Zorrilla, S.E. Gonorazky, M. Gaspari, J.A. Villegas

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Natural history of a mouse model of X-linked myotubular myopathy by Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling

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Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment by Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh McMillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky

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Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy by Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha, Paula Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael Shy, James J. Dowling.

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Incidencia de demencia de inicio precoz en Mar de Plata by M. Sanchez Abraham, D. Scharovsky, L.M. Romano, M. Ayala, A. Aleman, E. Sottano, I. Etchepareborda, C. Colla Machado, M.I. García, S.E. Gonorazky

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Incidence of early-onset dementia in Mar del Plata by M. Sanchez Abraham, D. Scharovsky, L.M. Romano, M. Ayala, A. Aleman, E. Sottano, I. Etchepareborda, C. Colla Machado, M.I. García, S.E. Gonorazky

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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects by Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad

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P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* by Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann

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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing by Cummings, Beryl, Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O’Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad, O’Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., MacArthur, Daniel G.

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