检索结果 - Deshpande, Charulata
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Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 由 Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, Brunetti‐Pierri, Nicola
出版 2022Text -
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome 由 Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
出版 2022Text -
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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study 由 Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M
出版 2021Text