Search Results - Smithson, Sarah

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

Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes by Mulder, Paul (Author) , Balkom, Ingrid D. C. van (Author) , Landlust, Annemiek M. (Author) , Priolo, Manuela (Author) , Menke, Leonie A. (Author) , Acero, Ines Hernandez (Author) , Alkuraya, Fowzan S. (Author) , Arias, Pedro (Author) , Bernardini, Laura (Author) , Bijlsma, Emilia K. (Author) , Cole, Trevor (Author) , Coubes, Christine (Author) , Dapia, Irene (Author) , Davies, Sally (Author) , Di Donato, Nataliya (Author) , Elcioglu, Nursel H. (Author) , Fahrner, Jill A. (Author) , Foster, Alison (Author) , González, Noelia Garcia (Author) , Huber, Ilka (Author) , Iascone, Maria (Author) , Kaiser, Ann-Sophie (Author) , Kamath, Arveen (Author) , Kooblall, Kreepa (Author) , Lapunzina, Pablo (Author) , Liebelt, Jan (Author) , Lynch, Sally Ann (Author) , Maas, Saskia M. (Author) , Mammì, Corrado (Author) , Mathijssen, Inge B. (Author) , McKee, Shane (Author) , Mirzaa, Ghayda M. (Author) , Montgomery, Tara (Author) , Neubauer, Dorothee (Author) , Neumann, Thomas E. (Author) , Pintomalli, Letizia (Author) , Pisanti, Maria A. (Author) , Plomp, Astrid S. (Author) , Price, Sue (Author) , Salter, Claire (Author) , Santos‐Simarro, Fernando (Author) , Sarda, Pierre (Author) , Schanze, Denny (Author) , Segovia, Mabel (Author) , Shaw‐Smith, Charles (Author) , Smithson, Sarah (Author) , Suri, Mohnish (Author) , Tatton‐Brown, Katrin (Author) , Tenorio, Jair (Author) , Thakker, Rajesh V. (Author) , Valdez, Rita Maria (Author) , Haeringen, Arie van (Author) , Hagen, Johanna M. van (Author) , Zenker, Martin (Author) , Zollino, Marcela (Author) , Dunn, Winnie W. (Author) , Piening, Sigrid (Author) , Hennekam, Raoul C. (Author) ,

• Resolving-System, lizenzpflichtig, Volltext
• Resolving-System, lizenzpflichtig, Volltext

Further delineation of Malan syndrome by Priolo, Manuela (Author) , Schanze, Denny (Author) , Tatton‐Brown, Katrin (Author) , Mulder, Paul A. (Author) , Tenorio, Jair (Author) , Kooblall, Kreepa (Author) , Acero, Inés Hernández (Author) , Alkuraya, Fowzan S. (Author) , Arias, Pedro (Author) , Bernardini, Laura (Author) , Bijlsma, Emilia K. (Author) , Cole, Trevor (Author) , Coubes, Christine (Author) , Dapia, Irene (Author) , Davies, Sally (Author) , Di Donato, Nataliya (Author) , Elcioglu, Nursel H. (Author) , Fahrner, Jill A. (Author) , Foster, Alison (Author) , González, Noelia García (Author) , Huber, Ilka (Author) , Iascone, Maria (Author) , Kaiser, Ann-Sophie (Author) , Kamath, Arveen (Author) , Liebelt, Jan (Author) , Lynch, Sally Ann (Author) , Maas, Saskia M. (Author) , Mammì, Corrado (Author) , Mathijssen, Inge B. (Author) , McKee, Shane (Author) , Menke, Leonie A. (Author) , Mirzaa, Ghayda M. (Author) , Montgomery, Tara (Author) , Neubauer, Dorothee (Author) , Neumann, Thomas E. (Author) , Pintomalli, Letizia (Author) , Pisanti, Maria Antonietta (Author) , Plomp, Astrid S. (Author) , Price, Sue (Author) , Salter, Claire (Author) , Santos‐Simarro, Fernando (Author) , Sarda, Pierre (Author) , Segovia, Mabel (Author) , Shaw‐Smith, Charles (Author) , Smithson, Sarah (Author) , Suri, Mohnish (Author) , Valdez, Rita Maria (Author) , Haeringen, Arie Van (Author) , Hagen, Johanna M. Van (Author) , Zollino, Marcela (Author) , Lapunzina, Pablo (Author) , Thakker, Rajesh V. (Author) , Zenker, Martin (Author) , Hennekam, Raoul C. (Author) ,

• Resolving-System, Volltext