نتائج البحث - Spranger, Stephanie 

Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation حسب Wagenstaller, Janine , Spranger, Stephanie , Lorenz-Depiereux, Bettina , Kazmierczak, Bernd , Nathrath, Michaela , Wahl, Dagmar , Heye, Babett , Gläser, Dieter , Liebscher, Volkmar , Meitinger, Thomas , Strom, Tim M. 

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RARE-14. Newborn with hypothalamic hamartoma and Pallister-Hall syndrome حسب Flaßkühler, Anna Meera, Friedrich, Carsten, Beckhaus, Julia, Boekhoff, Svenja, Fiedler, Kai, Becking, Mechthild Schulze, Hitz, Marc-Philipp, Gieldon, Laura, Spranger, Stephanie, Bison, Brigitte, Hoppe, Florian, Müller, Hermann L

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The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification حسب Becker, Lena-Luise, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas, Bok, Levinus, Rodan, Lance, Krapels, Ingrid, Spranger, Stephanie, Weschke, Bernhard, Johnson, Katherine, Straub, Volker, Kaindl, Angela M., Di Donato, Nataliya, von der Hagen, Maja, Cirak, Sebahattin

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Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits حسب Horn, Denise, Kapeller, Johannes, Rivera-Brugués, Núria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P, Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R, Franke, Andre, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva, Rappold, Gudrun A, Strom, Tim M

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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency حسب Ahting, Uwe, Mayr, Johannes A., Vanlander, Arnaud V., Hardy, Steven A., Santra, Saikat, Makowski, Christine, Alston, Charlotte L., Zimmermann, Franz A., Abela, Lucia, Plecko, Barbara, Rohrbach, Marianne, Spranger, Stephanie, Seneca, Sara, Rolinski, Boris, Hagendorff, Angela, Hempel, Maja, Sperl, Wolfgang, Meitinger, Thomas, Smet, Joél, Taylor, Robert W., Van Coster, Rudy, Freisinger, Peter, Prokisch, Holger, Haack, Tobias B.

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Genotype and phenotype spectrum of NRAS germline variants حسب Altmüller, Franziska, Lissewski, Christina, Bertola, Debora, Flex, Elisabetta, Stark, Zornitza, Spranger, Stephanie, Baynam, Gareth, Buscarilli, Michelle, Dyack, Sarah, Gillis, Jane, Yntema, Helger G, Pantaleoni, Francesca, van Loon, Rosa LE, MacKay, Sara, Mina, Kym, Schanze, Ina, Tan, Tiong Yang, Walsh, Maie, White, Susan M, Niewisch, Marena R, García-Miñaúr, Sixto, Plaza, Diego, Ahmadian, Mohammad Reza, Cavé, Hélène, Tartaglia, Marco, Zenker, Martin

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RAD21 Mutations Cause a Human Cohesinopathy حسب Deardorff, Matthew A., Wilde, Jonathan J., Albrecht, Melanie, Dickinson, Emma, Tennstedt, Stephanie, Braunholz, Diana, Mönnich, Maren, Yan, Yuqian, Xu, Weizhen, Gil-Rodríguez, María Concepcion, Clark, Dinah, Hakonarson, Hakon, Halbach, Sara, Michelis, Laura Daniela, Rampuria, Abhinav, Rossier, Eva, Spranger, Stephanie, Van Maldergem, Lionel, Lynch, Sally Ann, Gillessen-Kaesbach, Gabriele, Lüdecke, Hermann-Josef, Ramsay, Robert G., McKay, Michael J., Krantz, Ian D., Xu, Huiling, Horsfield, Julia A., Kaiser, Frank J.

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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy حسب van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome حسب Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.

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