検索結果 - Janneke M.M. Weiss
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Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome 著者: Juliana F. Mazzeu, Ana Cristina Victorino Krepischi, Carla Rosenberg, Károly Szuhai, Jeroen Knijnenburg, Janneke M.M. Weiss, Irina Kerkis, Zan Mustacchi, Guilherme Colin, Rômulo Mombach, Rita de Cássia M. Pavanello, Paulo Alberto Otto, Angela Maria Vianna‐Morgante
出版事項 2007Artigo -
2
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome 著者: Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften
出版事項 2022Artigo