SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis von Hirschfeldova, K., Solc, R., Baxova, A., Zapletalova, J., Kebrdlova, V., Gaillyova, R., Prasilova, S., Soukalova, J., Mihalova, R., Lnenicka, P., Florianova, M., Stekrova, J.

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Identification of a Family with SUFU Germline Deletion Based on a Case of Desmoplastic Medulloblastoma in an Infant von Šoukalová, J, Vejmělková, K, Cermanová, T, Kašíková, K, Mikulášová, A, Janyšková, H, Melichárková, K, Pavelka, Z, Ježová, M, Pospíšilová, Š, Kuglík, P, Valášková, I, Gaillyová, R, Štěrba, J, Zitterbart, K

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Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH von Zrnová, E., Vranová, V., Šoukalová, J., Slámová, I., Vilémová, M., Gaillyová, R., Kuglík, P.

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M.P.2.02 A family with multiple members affected by late-onset Pompe disease due to the R224W(670C > T) mutation: Potential candidates for enzyme replacement therapy? von Vondracek, P, Hermanova, M, Oslejskova, H, Soukalova, J, Gaillyova, R, Malinova, V, Poupetova, H, Halley, D, van der Ploeg, A

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Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia von Bonczek, Ondřej, Bielik, Peter, Krejčí, Přemysl, Zeman, Tomáš, Izakovičová-Hollá, Lýdie, Šoukalová, Jana, Vaněk, Jiří, Gerguri, Tereza, Balcar, Vladimir J, Šerý, Omar

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Vrozené trombofilie a cytogenetické nálezy u pacientů s opakovanými fetálními ztrátami von Gaillyová, Renata, Čech, Z, Vilémová, M, Prášilová, Š, Kalina, Z, Šoukalová, J, Višňová, H, Penka, Miroslav, Ventruba, Pavel

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies von Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Hornemann, T

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies von Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Romero Sánchez, Juan, Suthar, Renu, Udani, Vrajesh, Nalini, Atchayaram, Unnikrishnan, Gopikrishnan, Marques, Junior, Wilson, Mercier, Sandra, Procaccio, Vincent, Bris, Céline, Suresh, Beena, Reddy, Vaishnavi, Skorupinska, Mariola, Bonello-Palot, Nathalie, Mochel, Fanny, Dahl, Georg, Sasidharan, Karthika, Devassikutty, Fiji M, Nampoothiri, Sheela, Rodovalho Doriqui, Maria J, Müller-Felber, Wolfgang, Vill, Katharina, Haack, Tobias B, Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S, Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Jörg B, Wood, John N, Cox, James J, Auer-Grumbach, Michaela, Timmerman, Vincent, de Winter, Jonathan, Themistocleous, Andreas C, Shy, Michael, Bennett, David L, Baets, Jonathan, Hübner, Christian A, Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Çakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C Geoffrey, Reilly, Mary M, Kurth, Ingo

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WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer von Bielik, Peter, Bonczek, Ondřej, Krejčí, Přemysl, Zeman, Tomáš, Izakovičová-Hollá, Lydie, Šoukalová, Jana, Vaněk, Jiří, Vojtěšek, Bořivoj, Lochman, Jan, Balcar, Vladimir J., Šerý, Omar

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Ontogenetic and interpopulation differences in otolith shape of the European perch (Perca fluviatilis) von Souza, A.T., Soukalová, K., Děd, V., Šmejkal, M., Blabolil, P., Říha, M., Jůza, T., Vašek, M., Čech, M., Peterka, J., Vejřík, L., Vejříková, I., Tušer, M., Muška, M., Holubová, M., Boukal, D.S., Kubečka, J.

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Otolith shape variations between artificially stocked and autochthonous pikeperch (Sander lucioperca) von Souza, A.T., Soukalová, K., Děd, V., Šmejkal, M., Moraes, K., Říha, M., Muška, M., Frouzová, J., Kubečka, J.

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies von Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna ME, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Sánchez, Juan Romero, Suthar, Renu, Udani, Vrajesh, Nalini, Atchayaram, Unnikrishnan, Gopikrishnan, Junior, Wilson Marques, Mercier, Sandra, Procaccio, Vincent, Bris, Céline, Suresh, Beena, Reddy, Vaishnavi, Skorupinska, Mariola, Bonello-Palot, Nathalie, Mochel, Fanny, Dahl, Georg, Sasidharan, Karthika, Devassikutty, Fiji M, Nampoothiri, Sheela, Doriqui, Maria J Rodovalho, Müller-Felber, Wolfgang, Vill, Katharina, Haack, Tobias B, Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S, Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Jörg B, Wood, John N, Cox, James J, Auer-Grumbach, Michaela, Timmerman, Vincent, de Winter, Jonathan, Themistocleous, Andreas C, Shy, Michael, Bennett, David L, Baets, Jonathan, Hübner, Christian A, Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Çakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C Geoffrey, Reilly, Mary M, Kurth, Ingo

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