Результати пошуку - Segebrecht, Lara

VarFish: comprehensive DNA variant analysis for diagnostics and research за авторством Holtgrewe, Manuel, Stolpe, Oliver, Nieminen, Mikko, Mundlos, Stefan, Knaus, Alexej, Kornak, Uwe, Seelow, Dominik, Segebrecht, Lara, Spielmann, Malte, Fischer-Zirnsak, Björn, Boschann, Felix, Scholl, Ute, Ehmke, Nadja, Beule, Dieter

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De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction за авторством Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmüller, Janine, Netzer, Christian, Thiele, Holger, Nürnberg, Peter, Yigit, Gökhan, Jäger, Marten, Hecht, Jochen, Krüger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Björn, Kornak, Uwe

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Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders за авторством Fischer-Zirnsak, Björn, Segebrecht, Lara, Schubach, Max, Charles, Perrine, Alderman, Emily, Brown, Kathleen, Cadieux-Dion, Maxime, Cartwright, Tracy, Chen, Yanmin, Costin, Carrie, Fehr, Sarah, Fitzgerald, Keely M., Fleming, Emily, Foss, Kimberly, Ha, Thoa, Hildebrand, Gabriele, Horn, Denise, Liu, Shuxi, Marco, Elysa J., McDonald, Marie, McWalter, Kirsty, Race, Simone, Rush, Eric T., Si, Yue, Saunders, Carol, Slavotinek, Anne, Stockler-Ipsiroglu, Sylvia, Telegrafi, Aida, Thiffault, Isabelle, Torti, Erin, Tsai, Anne Chun-hui, Wang, Xin, Zafar, Muhammad, Keren, Boris, Kornak, Uwe, Boerkoel, Cornelius F., Mirzaa, Ghayda, Ehmke, Nadja

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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) за авторством Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Aqeel, Aida I. Al, Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja, Elbendary, Hasnaa M., Gorokhova, Svetlana, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre, Mignot, Cyril, Mohamed, Sarar, Nava, Caroline, Philip, Nicole, Ravix, Cecile, Rolfs, Arndt, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent, Wieland, Thomas, Engels, Hartmut, Strom, Tim M., Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef, Bauer, Peter, Wieczorek, Dagmar

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies за авторством Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.

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