Výsledky vyhledávání - Hančárová, Miroslava

Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics Autor Prochazkova, Kamila, Novotny, Petr, Hancarova, Miroslava, Prchalova, Darina, Sedlacek, Zdenek

Získat plný text Získat plný text Získat plný text

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated pheno... Autor Prchalova, Darina, Havlovicova, Marketa, Sterbova, Katalin, Stranecky, Viktor, Hancarova, Miroslava, Sedlacek, Zdenek

Získat plný text Získat plný text Získat plný text

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications Autor Drabova, Jana, Trkova, Marie, Hancarova, Miroslava, Novotna, Drahuse, Hejtmankova, Michaela, Havlovicova, Marketa, Sedlacek, Zdenek

Získat plný text Získat plný text Získat plný text

Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism Autor Musova, Zuzana, Hancarova, Miroslava, Havlovicova, Marketa, Pourova, Radka, Hrdlicka, Michal, Kraus, Josef, Trkova, Marie, Stejskal, David, Sedlacek, Zdenek

Získat plný text Získat plný text Získat plný text

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype Autor Hancarova, Miroslava, Babikyan, Davit, Bendova, Sarka, Midyan, Susanna, Prchalova, Darina, Shahsuvaryan, Gohar, Stranecky, Viktor, Sarkisian, Tamara, Sedlacek, Zdenek

Získat plný text Získat plný text Získat plný text

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations Autor Basak, Anindita, Hancarova, Miroslava, Ulirsch, Jacob C., Balci, Tugce B., Trkova, Marie, Pelisek, Michal, Vlckova, Marketa, Muzikova, Katerina, Cermak, Jaroslav, Trka, Jan, Dyment, David A., Orkin, Stuart H., Daly, Mark J., Sedlacek, Zdenek, Sankaran, Vijay G.

Získat plný text Získat plný text Získat plný text

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature Autor El Chehadeh, Salima, Kerstjens-Frederikse, Wilhelmina S, Thevenon, Julien, Kuentz, Paul, Bruel, Ange-Line, Thauvin-Robinet, Christel, Bensignor, Candace, Dollfus, Hélène, Laugel, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Bonnet, Caroline, Robert, Matthieu P, Isaiko, Rodica, Straub, Morgane, Creuzot-Garcher, Catherine, Calvas, Patrick, Chassaing, Nicolas, Loeys, Bart, Reyniers, Edwin, Vandeweyer, Geert, Kooy, Frank, Hančárová, Miroslava, Havlovicová, Marketa, Prchalová, Darina, Sedláček, Zdenek, Gilissen, Christian, Pfundt, Rolph, Wassink-Ruiter, Jolien S Klein, Faivre, Laurence

Získat plný text Získat plný text Získat plný text

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay Autor Hiatt, Susan M., Neu, Matthew B., Ramaker, Ryne C., Hardigan, Andrew A., Prokop, Jeremy W., Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K. C., Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D., Suchy, Sharon F., Willaert, Rebecca, Wentzensen, Ingrid M., Wheeler, Patricia G., Brick, Lauren, Kozenko, Mariya, Hurst, Anna C. E., Wheless, James W., Lacassie, Yves, Myers, Richard M., Barsh, Gregory S., Sedlacek, Zdenek, Cooper, Gregory M.

Získat plný text Získat plný text Získat plný text

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment Autor Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

Získat plný text Získat plný text Získat plný text

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Autor Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M., Motazacker, M. Mahdi, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A., Sherr, Elliott H., Argilli, Emanuela, England, Eleina M., Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B., Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric

Získat plný text Získat plný text Získat plný text

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia Autor Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, Maria, Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, Rolph, Falk, Marni J., McCormick, Elizabeth M., Timmers, H.T. Marc, van Hasselt, Peter M.

Získat plný text Získat plný text Získat plný text

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy Autor Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

Získat plný text Získat plný text Získat plný text

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Autor Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P., Gillentine, Madelyn A., Wilfert, Amy B., Perez-Jurado, Luis A., Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K., Rosenfeld, Jill A., Geisheker, Madeleine R., Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E., Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J. V., Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J., Manning, Melanie A., Liu, Pengfei, Scheffer, Ingrid E., Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G., Santen, Gijs W. E., Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J., Pierce, Karen, Courchesne, Eric, Kooy, R. Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A., Gecz, Jozef, Xia, Kun, Eichler, Evan E.

Získat plný text Získat plný text Získat plný text

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Autor Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P., Gillentine, Madelyn A., Wilfert, Amy B., Perez-Jurado, Luis A., Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K., Rosenfeld, Jill A., Geisheker, Madeleine R., Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E., Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J. V., Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J., Manning, Melanie A., Liu, Pengfei, Scheffer, Ingrid E., Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G., Santen, Gijs W. E., Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J., Pierce, Karen, Courchesne, Eric, Kooy, R. Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A., Gecz, Jozef, Xia, Kun, Eichler, Evan E.

Získat plný text Získat plný text Získat plný text

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients Autor Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel

Získat plný text Získat plný text Získat plný text

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients Autor Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M., Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel

Získat plný text Získat plný text Získat plný text