Search Results - Colin, Estelle

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  1. 1
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    Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay by Hough, Søren (Author) , Jhujh, Satpal S. (Author) , Awwad, Samah W. (Author) , Lewis, Oliver E. (Author) , Lam, Simon (Author) , Thomas, John C. (Author) , Mosler, Thorsten (Author) , Bader, Aldo (Author) , Bartik, Lauren (Author) , McKee, Shane (Author) , Amudhavalli, Shivarajan (Author) , Colin, Estelle (Author) , Damseh, Nadirah (Author) , Clement, Emma (Author) , Cacheiro, Pilar (Author) , Majumdar, Anirban (Author) , Smedley, Damian (Author) , Fluss, Joël (Author) , Giannini, Rosalinda (Author) , Thiffault, Isabelle (Author) , Zagnoli Vieira, Guido (Author) , Belotserkovskaya, Rimma (Author) , Smerdon, Stephen J. (Author) , Beli, Petra (Author) , Galanty, Yaron (Author) , Carnie, Christopher (Author) , Stewart, Grant S. (Author) , Jackson, Stephen P. (Author) ,


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  2. 2
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    HCN2-associated neurodevelopmental disorders: data from patients and xenopus cell models by Houdayer, Clara (Author) , Phillips, A. Marie (Author) , Chabbert, Marie (Author) , Bourreau, Jennifer (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) , Richards, Kay (Author) , Saadi, Nebal Waill (Author) , Dad'ová, Eliška (Author) , Van Bogaert, Patrick (Author) , Rupin, Mailys (Author) , Keren, Boris (Author) , Charles, Perrine (Author) , Smol, Thomas (Author) , Riquet, Audrey (Author) , Pais, Lynn (Author) , O'Donnell-Luria, Anne (Author) , VanNoy, Grace E. (Author) , Bayat, Allan (Author) , Møller, Rikke S (Author) , Olofsson, Kern (Author) , Jamra, Rami Abou (Author) , Syrbe, Steffen (Author) , Dasouki, Majed (Author) , Seaver, Laurie H. (Author) , Sullivan, Jennifer A. (Author) , Shashi, Vandana (Author) , Alkuraya, Fowzan S. (Author) , Poss, Alexis F. (Author) , Spence, J. Edward (Author) , Schnur, Rhonda E. (Author) , Forster, Ian C. (Author) , Mckenzie, Chaseley E. (Author) , Simons, Cas (Author) , Wang, Min (Author) , Snell, Penny (Author) , Kothur, Kavitha (Author) , Buckley, Michael (Author) , Roscioli, Tony (Author) , Elserafy, Noha (Author) , Dauriat, Benjamin (Author) , Procaccio, Vincent (Author) , Henrion, Daniel (Author) , Lenaers, Guy (Author) , Colin, Estelle (Author) , Verbeek, Nienke E. (Author) , Van Gassen, Koen L. (Author) , Legendre, Claire (Author) , Bonneau, Dominique (Author) , Reid, Christopher A. (Author) , Howell, Katherine B. (Author) , Ziegler, Alban (Author) , Legros, Christian (Author) ,


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  3. 3
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    De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity by Tessarech, Marine (Author) , Friocourt, Gaëlle (Author) , Marguet, Florent (Author) , Lecointre, Maryline (Author) , Le Mao, Morgane (Author) , Díaz, Rodrigo Muñoz (Author) , Mignot, Cyril (Author) , Keren, Boris (Author) , Héron, Bénédicte (Author) , De Bie, Charlotte (Author) , Van Gassen, Koen (Author) , Loisel, Didier (Author) , Delorme, Benoit (Author) , Syrbe, Steffen (Author) , Klabunde-Cherwon, Annick (Author) , Jamra, Rami Abou (Author) , Wegler, Meret (Author) , Callewaert, Bert (Author) , Dheedene, Annelies (Author) , Zidane-Marinnes, Merzouka (Author) , Guichet, Agnès (Author) , Bris, Céline (Author) , Van Bogaert, Patrick (Author) , Biquard, Florence (Author) , Lenaers, Guy (Author) , Marcorelles, Pascale (Author) , Ferec, Claude (Author) , Gonzalez, Bruno (Author) , Procaccio, Vincent (Author) , Vitobello, Antonio (Author) , Bonneau, Dominique (Author) , Laquerriere, Annie (Author) , Khiati, Salim (Author) , Colin, Estelle (Author) ,


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  4. 4
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    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by Tessadori, Federico (Author) , Duran, Karen (Author) , Knapp, Karen (Author) , Fellner, Matthias (Author) , Smithson, Sarah (Author) , Beleza Meireles, Ana (Author) , Elting, Mariet W. (Author) , Waisfisz, Quinten (Author) , O’Donnell-Luria, Anne (Author) , Nowak, Catherine (Author) , Douglas, Jessica (Author) , Ronan, Anne (Author) , Brunet, Theresa (Author) , Kotzaeridou, Urania (Author) , Svihovec, Shayna (Author) , Saenz, Margarita S. (Author) , Thiffault, Isabelle (Author) , Del Viso, Florencia (Author) , Devine, Patrick (Author) , Rego, Shannon (Author) , Tenney, Jessica (Author) , van Haeringen, Arie (Author) , Ruivenkamp, Claudia A. L. (Author) , Koene, Saskia (Author) , Robertson, Stephen P. (Author) , Deshpande, Charulata (Author) , Pfundt, Rolph (Author) , Verbeek, Nienke (Author) , van de Kamp, Jiddeke M. (Author) , Weiss, Janneke M. M. (Author) , Ruiz, Anna (Author) , Gabau, Elisabeth (Author) , Banne, Ehud (Author) , Pepler, Alexander (Author) , Bottani, Armand (Author) , Laurent, Sacha (Author) , Guipponi, Michel (Author) , Bijlsma, Emilia (Author) , Bruel, Ange-Line (Author) , Sorlin, Arthur (Author) , Willis, Mary (Author) , Powis, Zoe (Author) , Smol, Thomas (Author) , Vincent-Delorme, Catherine (Author) , Baralle, Diana (Author) , Colin, Estelle (Author) , Revencu, Nicole (Author) , Calpena, Eduardo (Author) , Wilkie, Andrew O. M. (Author) , Chopra, Maya (Author) , Cormier-Daire, Valerie (Author) , Keren, Boris (Author) , Afenjar, Alexandra (Author) , Niceta, Marcello (Author) , Terracciano, Alessandra (Author) , Specchio, Nicola (Author) , Tartaglia, Marco (Author) , Rio, Marlene (Author) , Barcia, Giulia (Author) , Rondeau, Sophie (Author) , Colson, Cindy (Author) , Bakkers, Jeroen (Author) , Mace, Peter D. (Author) , Bicknell, Louise S. (Author) , van Haaften, Gijs (Author) ,


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  5. 5
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    Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy by Colin, Estelle (Author) , Assmann, Birgit (Author) , Christ, Stine (Author) , Hoffmann, Georg F. (Author) ,


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