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Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Autor: Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Deciphering Developmental Disorders Study, 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

Publikováno v: American journal of human genetics, Vol. 109, no.4, p. 750-758 (2022)
American journal of human genetics, 109(4), 750-758. Cell Press
American Journal of Human Genetics, 109, 750-758
American Journal of Human Genetics, 109(4), 750-758. CELL PRESS
Deciphering Developmental Disorders Study 2022, ' Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 750-758 . https://doi.org/10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, 109(4), 750-758. Cell Press
American Journal of Human Genetics, 109, 4, pp. 750-758

Contains fulltext : 252023.pdf (Publisher’s version ) (Open Access) Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular proc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26baf96963f72d8c775857dfc818214
https://doi.org/10.1016/j.ajhg.2022.02.003