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	41.	Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. [electronic resource] by Krutilkova, Vera Trkova, Marie Fleitz, Julie Gregor, Vladimir Novotna, Kamila Krepelova, Anna Sumerauer, David Kodet, Roman Siruckova, Simona Plevova, Pavlina Bendova, Sarka Hedvicakova, Petra Foreman, Nicholas K Sedlacek, Zdenek Producer: 20050912 In: European journal of cancer (Oxford, England : 1990) vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23. [electronic resource] by Brisset, Sophie Slamova, Zuzana Dusatkova, Petra Briand-Suleau, Audrey Milcent, Karen Metay, Corinne Simandlova, Martina Sumnik, Zdenek Tosca, Lucie Goossens, Michel Labrune, Philippe Zemankova, Elsa Lebl, Jan Tachdjian, Gerard Sedlacek, Zdenek Producer: 20140313 In: Molecular cytogenetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases. [electronic resource] by Mejstríková, Ester Janda, Ales Hrusák, Ondrej Bucková, Hana Vlcková, Markéta Hancárová, Miroslava Freiberger, Tomás Ravcuková, Barbora Vesely, Karel Fajkusová, Lenka Kopecková, Lenka Sumerauer, David Kabícková, Edita Sedivá, Anna Stary, Jan Sedlácek, Zdenek Producer: 20120327 In: Pediatrics vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	44.	HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. [electronic resource] by Jolly, Lachlan A Nguyen, Lam Son Domingo, Deepti Sun, Ying Barry, Simon Hancarova, Miroslava Plevova, Pavlina Vlckova, Marketa Havlovicova, Marketa Kalscheuer, Vera M Graziano, Claudio Pippucci, Tommaso Bonora, Elena Sedlacek, Zdenek Gecz, Jozef Producer: 20160204 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. [electronic resource] by 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 Producer: 20150812 In: The Journal of clinical investigation vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. [electronic resource] by Barbé, Lise Lanni, Stella López-Castel, Arturo Franck, Silvie Spits, Claudia Keymolen, Kathelijn Seneca, Sara Tomé, Stephanie Miron, Ioana Letourneau, Julie Liang, Minggao Choufani, Sanaa Weksberg, Rosanna Wilson, Michael D Sedlacek, Zdenek Gagnon, Cynthia Musova, Zuzana Chitayat, David Shannon, Patrick Mathieu, Jean Sermon, Karen Pearson, Christopher E Producer: 20170510 In: American journal of human genetics vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. [electronic resource] by 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 Producer: 20170726 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. [electronic resource] by 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 Producer: 20200331 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. [electronic resource] by 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 Producer: 20190208 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. [electronic resource] by Geisheker, Madeleine R Heymann, Gabriel Wang, Tianyun Coe, Bradley P Turner, Tychele N Stessman, Holly A F Hoekzema, Kendra Kvarnung, Malin Shaw, Marie Friend, Kathryn Liebelt, Jan Barnett, Christopher Thompson, Elizabeth M Haan, Eric Guo, Hui Anderlid, Britt-Marie Nordgren, Ann Lindstrand, Anna Vandeweyer, Geert Alberti, Antonino Avola, Emanuela Vinci, Mirella Giusto, Stefania Pramparo, Tiziano Pierce, Karen Nalabolu, Srinivasa Michaelson, Jacob J Sedlacek, Zdenek Santen, Gijs W E Peeters, Hilde Hakonarson, Hakon Courchesne, Eric Romano, Corrado Kooy, R Frank Bernier, Raphael A Nordenskjöld, Magnus Gecz, Jozef Xia, Kun Zweifel, Larry S Eichler, Evan E Producer: 20170905 In: Nature neuroscience vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. [electronic resource] by 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 Producer: 20200316 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)