Хайлтын үр дүнгүүд - Vlčková, Markéta

The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis -н Geryk, Jan, Krsička, Daniel, Vlčková, Markéta, Havlovicová, Markéta, Macek, Milan, Kremlíková Pourová, Radka

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life -н Staněk, David, Laššuthová, Petra, Štěrbová, Katalin, Vlčková, Markéta, Neupauerová, Jana, Krůtová, Marcela, Seeman, Pavel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature -н Tesner, Pavel, Drabova, Jana, Stolfa, Miroslav, Kudr, Martin, Kyncl, Martin, Moslerova, Veronika, Novotna, Drahuse, Kremlikova Pourova, Radka, Kocarek, Eduard, Rasplickova, Tereza, Sedlacek, Zdenek, Vlckova, Marketa

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

ATRT-11. MOLECULAR BACKGROUND AND SURVIVAL OF PATIENTS WITH ATRT AND RHABDOID TUMOURS; SINGLE CENTRE EXPERIENCE -н Misove, Adela, Vlckova, Marketa, Zamecnik, Josef, Krskova, Lenka, Vanova, Katerina, Stary, Jan, Malinova, Bela, Pernikova, Ivana, Vicha, Ales, Liby, Petr, Tichy, Michal, Kyncl, Martin, Zapotocky, Michal, Sumerauer, David

Бүрэн текст авах Бүрэн текст авах

GENE-14. UNIQUE MOLECULAR AND CLINICAL FEATURES OF LI-FRAUMENI SYNDROME ASSOCIATED BRAIN TUMOURS -н Zapotocky, Michal, Misove, Adela, Vlckova, Marketa, Krskova, Lenka, Zamecnik, Josef, Vanova, Katerina, Malinova, Bela, Ondrova, Barbora, Pernikova, Ivana, Vicha, Ales, Tichy, Michal, Liby, Petr, Kyncl, Martin, Ramaswamy, Vijay, Sumerauer, David

Бүрэн текст авах Бүрэн текст авах

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 -н Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frédérique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sérgio B., Van Maldergem, Lionel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations -н 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.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia -н 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.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах