Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family von Koene, Saskia, Klerx‐Melis, Floortje, Roest, Arno Anne Willem, Kleijwegt, Maarten Cornelis, Bootsma, Marianne, Haak, Monique C., Haeringen, Meike Heleen, Ruivenkamp, Claudia Antoinette Laetitia, Nibbeling, Esther Anne Rieky, Haeringen, Arie

Volltext

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome von 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 Antoinette Laetitia, 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, Universitat Autònoma de Barcelona

Volltext bestellen

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family von Koene, Saskia, Klerx-Melis, Floortje, Roest, Arno Anne Willem, Kleijwegt, Maarten Cornelis, Bootsma, Marianne, Haak, Monique C, van Haeringen, Meike Heleen, Ruivenkamp, Claudia Antoinette Laetitia, Nibbeling, Esther Anne Rieky, van Haeringen, Arie

Volltext