Search Results - Smol, Thomas

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) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

RPL26 variants: a rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront by Vanlerberghe, Clémence (Author) , Frénois, Frédéric (Author) , Smol, Thomas (Author) , Jourdain, Anne-Sophie (Author) , Escande, Fabienne (Author) , Aït-Yahya, Emilie (Author) , Aldeeri, Abdulrahman A. (Author) , Yu, Timothy W. (Author) , Cormier-Daire, Valérie (Author) , Ghoumid, Jamal (Author) , Jacob, Maureen (Author) , Newbury-Ecob, Ruth (Author) , Manouvrier, Sylvie (Author) , Platon, Jessica (Author) , Sailer, Sebastian (Author) , Brunelle, Perrine (Author) , Da Costa, Lydie (Author) , Petit, Florence (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

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) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext