Torthaí cuardaigh - Zdeněk Sedláček

  • 1 - 14 toradh as 14 á dtaispeáint
Beachtaigh na torthaí
  1. 1
    Odor detection threshold, but not odor identification, is impaired in children with autism

    Odor detection threshold, but not odor identification, is impaired in children with autism de réir Iva Dudová, Jan Vodička, Markéta Havlovičová, Zdeněk Sedláček, Tomáš Urbánek, Michal Hrdlička

    Foilsithe / Cruthaithe 2011
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  2. 2
    HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

    HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain de réir Lachlan A. Jolly, Lam Son Nguyen, Deepti Domingo, Yongsheng Sun, Simon C. Barry, Miroslava Hančárová, Pavlína Plevová, Markéta Vlčková, Markéta Havlovičová, Vera M. Kalscheuer, Claudio Graziano, Tommaso Pippucci, Elena Bonora, Zdeněk Sedláček, Jozef Gécz

    Foilsithe / Cruthaithe 2015
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  3. 3
    BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

    BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations de réir Anindita Basak, Miroslava Hančárová, Jacob C. Ulirsch, Tuğçe B. Balcı, Marie Trková, Michal Pelisek, Markéta Vlčková, Kateřina Mužíková, Jaroslav Čermák, Jan Trka, David A. Dyment, Stuart H. Orkin, Mark J. Daly, Zdeněk Sedláček, Vijay G. Sankaran

    Foilsithe / Cruthaithe 2015
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  4. 4
    CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

    CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy de réir Lise Barbé, Stella Lanni, Arturo López Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stéphanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D. Wilson, Zdeněk Sedláček, Cynthia Gagnon, Zuzana Mušová, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon, Christopher E. Pearson

    Foilsithe / Cruthaithe 2017
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  5. 5
    Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation

    Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation de réir Maja Bućan, Michael Zimmer, William L. Whaley, Annemarie Poustka, S Youngman, Bernice A. Allitto, Elizabeth Ormondroyd, Barbara A. Smith, Thomas Pohl, Marcy E. MacDonald, Gillian P. Bates, Julia E. Richards, Stefano Volinia, T. Conrad Gilliam, Zdeněk Sedláček, Francis S. Collins, John J. Wasmuth, Duncan J. Shaw, James F. Gusella, A-M. Frischauf, Hans Lehrach

    Foilsithe / Cruthaithe 1990
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  6. 6
    Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

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

    Foilsithe / Cruthaithe 2016
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  7. 7
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains de réir Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    Foilsithe / Cruthaithe 2017
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  8. 8
    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities de réir Fuad Chowdhury, Lei Wang, Mohammed Al‐Raqad, David J. Amor, A Baxová, Šárka Bendová, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral Gunay‐Aygun, Miroslava Hančárová, Devon Haynes, Solveig Heide, George Hoganson, Tadashi Kaname, Boris Keren, Kenjiro Kosaki, Kazuo Kubota, Jennifer Lemons, Maria A. Magriñá, Paul R. Mark, Marie McDonald, Sarah Montgomery, Gina M. Morley, Hidenori Ohnishi, Nobuhiko Okamoto, David Rodriguez‐Buritica, Patrick Rump, Zdeněk Sedláček, Krista Schatz, Haley Streff, Tomoko Uehara, Jagdeep S. Walia, Patricia G. Wheeler, Antje Wiesener, Christiane Zweier, Koichi Kawakami, Ingrid M. Wentzensen, Seema R. Lalani, Victoria Mok Siu, Weimin Bi, Tuğçe B. Balcı

    Foilsithe / Cruthaithe 2021
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  9. 9
    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

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

    Foilsithe / Cruthaithe 2021
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  10. 10
    De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

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

    Foilsithe / Cruthaithe 2019
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  11. 11
    A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

    A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes de réir Marcy E. MacDonald, Christine Ambrose, Mabel P. Duyao, Richard H. Myers, Carol Sze Ki Lin, Lakshmi Srinidhi, Glenn Barnes, Sherryl A. Taylor, Marianne F. James, Nicolet Groot, H MacFarlane, Barbara Jenkins, Mary Anne Anderson, Nancy S. Wexler, James F. Gusella, Gillian P. Bates, Sarah Baxendale, Holger Hummerich, Susan Kirby, Mike North, S Youngman, Richard Mott, Günther Zehetner, Zdeněk Sedláček, Annemarie Poustka, Anna‐Maria Frischauf, Hans Lehrach, Alan Buckler, Deanna M. Church, Lynn Doucette‐Stamm, Michael O’Donovan, Laura Riba-Ramírez, Manish A. Shah, Vincent P. Stanton, Scott A. Strobel, K. M. Draths, Jennifer L. Wales, Peter B. Dervan, David E. Housman, Michael R. Altherr, Rita Shiang, Leslie M. Thompson, Thomas J. Fielder, John J. Wasmuth, Danilo A. Tagle, John Valdes, Lawrence Elmer, Marc W. Allard, Lucio H. Castilla, Manju Swaroop, K Blanchard, Francis S. Collins, Russell G. Snell, Tracey Holloway, Kathleen M. Gillespie, Nicole A. Datson, Duncan Shaw, Peter S. Harper

    Foilsithe / Cruthaithe 1993
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  12. 12
    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders de réir Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Pérez‐Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, E. A. Thompson, Marie Shaw, Renée Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt‐Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke G. McKenna, Miroslava Hančárová, Šárka Bendová, Markéta Havlovicová, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariëtte J.V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin B. Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti‐Pierri, Nanda Rommelse, David G. Amaral, Gijs W.E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks, Martin E. Butler, Lindsey A. Cartner, Wubin Chin, Wendy K. Chung, Amy M. Daniels, Pamela Feliciano, Chris Fleisch, Swami Ganesan, William B. Jensen, Alex E. Lash, Richard P. Marini, Vincent J. Myers, Eirene O’Connor, Chris Rigby, B. E. Robertson, Neelay Shah, Swapnil Shah, Emily Singer, LeeAnne Green Snyder, Alexandra N. Stephens, Jennifer Tjernagel, Brianna M. Vernoia, Natalia Volfovsky, L. Casey White, Alexander Hsieh, Yufeng Shen, Xueya Zhou, Tychele N. Turner, Ethan Bahl, Taylor R. Thomas

    Foilsithe / Cruthaithe 2020
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  13. 13
    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features de réir Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea Petersen, Luis A. Pérez‐Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hančárová, Šárka Bendová, Martin Schwarz, Radka Kremlíková Pourová, Zdeněk Sedláček, Beth Keena, Michael March, Cuiping Hou, Nora O’Connor, Elizabeth Bhoj, Margaret Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark A. Tarnopolsky, Lauren Brady, Michael Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina H. Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tuğçe B. Balcı, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, C. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, M. Mahdi Motazacker, Julián A. Martínez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni‐Ardori, Mary Ellen Palko, Tzung‐Chien Hsieh, Peter Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John M. Greally, Sébastien Jacquemont, Khadijé Jizi, Ange‐Line Bruel, Chloé Quēlin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Hurst, Michelle L. Thompson, Ryan Schmidt, Linda M. Randolph, Rebecca C. Spillmann, Vandana Shashi

    Foilsithe / Cruthaithe 2023
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  14. 14
    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders de réir Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez

    Foilsithe / Cruthaithe 2022
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