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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

by Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.
Published in American journal of human genetics (03.06.2021)

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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

by Küry, Sébastien, Stanton, Janelle E, van Woerden, Geeske, Hsieh, Tzung-Chien, Rosenfelt, Cory, Scott-Boyer, Marie Pier, Most, Victoria, Wang, Tianyun, Papendorf, Jonas Johannes, de Konink, Charlotte, Deb, Wallid, Vignard, Virginie, Studencka-Turski, Maja, Besnard, Thomas, Hajdukowicz, Anna Marta, Thiel, Franziska, Möller, Sophie, Florenceau, Laëtitia, Cuinat, Silvestre, Marsac, Sylvain, Wentzensen, Ingrid, Tuttle, Annabelle, Forster, Cara, Striesow, Johanna, Golnik, Richard, Ortiz, Damara, Jenkins, Laura, Rosenfeld, Jill A, Ziegler, Alban, Houdayer, Clara, Bonneau, Dominique, Torti, Erin, Begtrup, Amber, Monaghan, Kristin G, Mullegama, Sureni V, Volker-Touw, C M L Nienke, van Gassen, Koen L I, Oegema, Renske, de Pagter, Mirjam, Steindl, Katharina, Rauch, Anita, Ivanovski, Ivan, McDonald, Kimberly, Boothe, Emily, Dauber, Andrew, Baker, Janice, Fabie, Noelle Andrea V, Bernier, Raphael A, Turner, Tychele N, Srivastava, Siddharth, Dies, Kira A, Swanson, Lindsay, Costin, Carrie, Jobling, Rebekah K, Pappas, John, Rabin, Rachel, Niyazov, Dmitriy, Tsai, Anne Chun-Hui, Kovak, Karen, Beck, David B, Malicdan, McV, Adams, David R, Wolfe, Lynne, Ganetzky, Rebecca D, Muraresku, Colleen, Babikyan, Davit, Sedláček, Zdeněk, Hančárová, Miroslava, Timberlake, Andrew T, Al Saif, Hind, Nestler, Berkley, King, Kayla, Hajianpour, M J, Costain, Gregory, Prendergast, D'Arcy, Li, Chumei, Geneviève, David, Vitobello, Antonio, Sorlin, Arthur, Philippe, Christophe, Harel, Tamar, Toker, Ori, Sabir, Ataf, Lim, Derek, Hamilton, Mark, Bryson, Lisa, Cleary, Elaine, Weber, Sacha, Hoffman, Trevor L, Cueto-González, Anna Maria, Tizzano, Eduardo Fidel, Gómez-Andrés, David, Codina-Solà, Marta, Ververi, Athina, Pavlidou, Efterpi, Lambropoulos, Alexandros, Garganis, Kyriakos, Rio, Marlène, Levy, Jonathan, Jurgensmeyer, Sarah
Published in medRxiv : the preprint server for health sciences (26.01.2024)

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