Showing 1 - 18 results of 18 for search '"Klein Wassink-Ruiter, Jolien S."', query time: 2.96s Refine Results  

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

by Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.
Published in American journal of human genetics (05.03.2015)

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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

by Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R., Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J., Schnur, Rhonda E., Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J., Masser-Frye, Diane, Bird, Lynne M., Lindstrom, Kristin, Ramsey, Keri M., Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G., Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H., Klein Wassink-Ruiter, Jolien S., Bijlsma, Emilia, Hoffer, Mariëtte, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A., Machol, Keren, Scott, Daryl A., Bacino, Carlos A., Wang, Xia, Clark, Gary D., Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H., Akay, Ela, Chang, Richard C., Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E., Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W., Lefebvre, Véronique, Clark, Karl J., Depienne, Christel
Published in Genetics in medicine (01.03.2020)

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Widening of the genetic and clinical spectrum of Lamb–Shaffersyndrome, a neurodevelopmental disorder due to SOX5haploinsufficiency

by Ash, Zawerton, Mignot Cyril, Sigafoos Ashley, Blackburn, Patrick R, Haseeb Abdul, McWalter Kirsty, Ichikawa Shoji, Nava, Caroline, Keren, Boris, Perrine, Charles, Marey Isabelle, Tabet Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca Gaetan, Schluth-Bolard Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto Maria J, Schnur, Rhonda E, Zhu Zehua, Poisson, Alice, Salima, El Chehadeh, Alembik Yves, Ange-Line, Bruel, Lehalle Daphné, Nambot Sophie, Moutton Sébastien, Odent Sylvie, Jaillard Sylvie, Dubourg Christèle, Hilhorst-Hofstee Yvonne, Barbaro-Dieber Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter Jolien S, Bijlsma Emilia, Hoffer, Mariëtte J, Vargas, Marcelo, Wojcik Antonina, Cherik Florian, Francannet Christine, Rosenfeld, Jill A, Machol Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay Ela, Chang, Richard C, Bressi Rebekah, Sanchez Russo Rossana, Srour Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Maries, Joseph, Nizon Mathilde, Cogné Benjamin, Kuechler Alma, Piton Amélie, Klee, Eric W, Lefebvre Véronique, Clark, Karl J, Depienne Christel
Published in Genetics in medicine (01.03.2020)

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