نتائج البحث - Charulata Deshpande

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  1. 1
    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study حسب Katherine Schon, Rita Horváth, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibáñez, Thiloka Ratnaike, Robert D. S. Pitceathly, Enrico Bugiardini, Rosaline C. M. Quinlivan, Michael G. Hanna, Emma Clement, Emma Ashton, John A. Sayer, Paul M. Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah Smithson, Richard Festenstein, Natalie Canham, Mark J. Caulfield, Henry Houlden, Shamima Rahman, Patrick F. Chinnery

    منشور في 2021
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  2. 2
    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 حسب 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

    منشور في 2022
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