Suchergebnisse - Escobar, Luis F.

Teaching of evidence-based medicine to medical students in Mexico: a randomized controlled trial von Sánchez-Mendiola, Melchor, Kieffer-Escobar, Luis F, Marín-Beltrán, Salvador, Downing, Steven M, Schwartz, Alan

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication von Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G

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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay von Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity von Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants von Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M., Asamoah, Alexander, Jackson, Kelly E., Gowans, Gordon C., Martin, Judith A., Carmany, Erin P., Stockton, David W., Schnur, Rhonda E., Penney, Lynette S., Martin, Donna M., Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M., Escobar, Luis F., El-Khechen, Dima, Johnson, Kisha D., Lebel, Robert R., Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K., Spence, J. Edward, Martin, Laura S., Clericuzio, Carol, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature von Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies von 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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A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay von Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.

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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders von Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy von O’Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Demurger, Florence, Dowling, James J., Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F., Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Heide, Solveig, Helbig, Katherine L., Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R., Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y., Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M., Maegawa, Gustavo H.B., Marcelis, Carlo L.M., Mark, Paul R., Masruha, Marcelo R., McLaughlin, Heather M., McWalter, Kirsty, Melchinger, Esther U., Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L.P., Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A., van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G., Wentzensen, Ingrid M., Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H.

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