Resultados de procura - Jessica Tenney

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  1. 1
    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis por Felipe Albuquerque Marques, Jessica Tenney, Iván Durán, Jorge Martı́n, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H. Cohn, Bing Li

    Publicado 2016
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    Errata/Corrigenda
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  2. 2
    Application of full-genome analysis to diagnose rare monogenic disorders

    Application of full-genome analysis to diagnose rare monogenic disorders por Joseph T.C. Shieh, Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David I. K. Martin, Pui‐Yan Kwok, Dario Boffelli

    Publicado 2021
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  3. 3
    Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

    Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population por Anne Slavotinek, Shannon Rego, Nuriye Sahin‐Hodoglugil, Mark Kvale, Billie R. Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta Cilio, Cynthia J. Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce A. Mendelsohn, Elliott H. Sherr, Joseph T.C. Shieh, Jonathan B. Strober, Allison Tam, Jessica Tenney, William A. Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Uğur Hodoğlugil, Pierre‐Marie Martin, Teresa N. Sparks, Barbara A. Koenig, Sara Ackerman, Neil Risch, Pui‐Yan Kwok, Mary E. Norton

    Publicado 2023
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  4. 4
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome por Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    Publicado 2022
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