Zobrazeno 1 - 10 of 68 pro vyhledávání: '"Rudolf, Gorazd"'
1
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
2
Akademický článek
A new case of rare proximal 3q13 interstitial deletion
Autor: Lovrecic Luca, Rudolf Gorazd, Veble Alenka, Peterlin Borut
Publikováno v: Open Medicine, Vol 6, Iss 5, Pp 625-630 (2011)
Externí odkaz: https://doaj.org/article/924f5e4482ea411799bc2cdf5340b207
Zobrazit plný text záznamu
4
Akademický článek
PEDIA: prioritization of exome data by image analysis
Autor: Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi Beate, Biskup, Saskia, Borisov, Oleg, Braaten, Øivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, David Eden, Hilda, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Dukic, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Marín Reina, Purificación, Martinez Carrascal, Antonio, Mitter, Diana, Morlan Herrador, Laura, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Ringmann Fagerberg, Christina, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kuyng, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wisniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.
Publikováno v: Hsieh, Tzung-Chien Mensah, Martin A. Pantel, Jean T. Aguilar, Dione Bar, Omri Bayat, Allan Becerra-Solano, Luis Bentzen, Heidi Beate Biskup, Saskia Borisov, Oleg Braaten, Øivind Ciaccio, Claudia Coutelier, Marie Cremer, Kirsten Danyel, Magdalena Daschkey, Svenja David Eden, Hilda Devriendt, Koenraad Wilson, Sandra Douzgou, Sofia Dukic, Dejan Ehmke, Nadja Fauth, Christine Fischer-Zirnsak, Björn Fleischer, Nicole Gabriel, Heinz Graul-Neumann, Luitgard Gripp, Karen W. Gurovich, Yaron Gusina, Asya Haddad, Nechama Hajjir, Nurulhuda Hanani, Yair Hertzberg, Jakob Hoertnagel, Konstanze Howell, Janelle Ivanovski, Ivan Kaindl, Angela Kamphans, Tom Kamphausen, Susanne Karimov, Catherine Kathom, Hadil Keryan, Anna Knaus, Alexej Köhler, Sebastian Kornak, Uwe Lavrov, Alexander Leitheiser, Maximilian Lyon, Gholson J. Mangold, Elisabeth Marín Reina, Purificación Martinez Carrascal, Antonio Mitter, Diana Morlan Herrador, Laura Nadav, Guy Nöthen, Markus Orrico, Alfredo Ott, Claus-Eric Park, Kristen Peterlin, Borut Pölsler, Laura Raas-Rothschild, Annick Randolph, Linda Revencu, Nicole Ringmann Fagerberg, Christina Robinson, Peter Nick Rosnev, Stanislav Rudnik, Sabine Rudolf, Gorazd Schatz, Ulrich Schossig, Anna Schubach, Max Shanoon, Or Sheridan, Eamonn Smirin-Yosef, Pola Spielmann, Malte Suk, Eun-Kuyng Sznajer, Yves Thiel, Christian T. Thiel, Gundula Verloes, Alain Vrecar, Irena Wahl, Dagmar Weber, Ingrid Winter, Korina Wisniewska, Marzena Wollnik, Bernd Yeung, Ming W. Zhao, Max Zhu, Na Zschocke, Johannes Mundlos, Stefan Horn, Denise Krawitz, Peter M. . PEDIA: prioritization of exome data by image analysis. Genetics in Medicine. 2019
Genetics in Medicine
Externí odkaz: http://hdl.handle.net/10852/75783
https://www.duo.uio.no/bitstream/handle/10852/75783/1/PEDIA_prioritization%2Bof%2Bexome%2Bdata%2Bby%2Bimage%2Banalysis.pdf
Zobrazit plný text záznamu
5
De novo SOX6 variants cause a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas
Autor: M. Zarowiecki, A. Devereau, S.M. Wood, J. M. Boissiere, G. Elgar, Cara Forster, Liesbeth Keldermans, A. Sieghart, Allyn McConkie-Rosell, Augusto Rendon, S. R. Thompson, D. Polychronopoulos, Alexandre Arkader, Julien Thevenon, D. Kasperaviciute, Alma Kuechler, Bryan L. Krock, Dominique Martin-Coignard, Damian Smedley, T. Rahim, Barbara Mikat, Amber Begtrup, Priya Prasad, Lindsay B. Henderson, A. Stuckey, Mathilde Nizon, Tim Hubbard, I. U. S. Leong, M. Bleda, L. Lahnstein, C. E. H. Craig, Bertrand Isidor, Sarah Leigh, Joanne Mason, L. Moutsianas, T. Fowler, A. Siddiq, J. Pullinger, Marco Angelozzi, J. Ambrose, S. A. Watters, Saadet Mercimek-Andrews, K. Lawson, Claudia A. L. Ruivenkamp, Ian D. Krantz, J. E. Holman, Solveig Heide, Christel Depienne, Elizabeth T. DeChene, L. C. Daugherty, Alvaro Serrano Russi, Arianna Tucci, Mark J. Caulfield, Marie T. McDonald, Boris Keren, A. C. Need, Damara Ortiz, Nicola Foulds, William Spooner, Dara Tolchin, Eduardo Calpena, C. R. Boustred, Abdul Haseeb, Rudolf Gorazd, Charles Coutton, Alona Sosinsky, D. Perez-Gil, Sarah Stewart, J. M. Hackett, Giada Melistaccio, Andrew O.M. Wilkie, Radka Stoeva, Cédric Le Caignec, Pauline Le Tanno, Benjamin Cogné, Martina Mueller, Naghmeh Dorrani, Pedro Furió-Tarí, Gijs W. E. Santen, Hermann-Josef Lüdecke, Jessica P. Yeager, Julian A. Martinez-Agosto, Damien Haye, Kieran B. Pechter, Mohnish Suri, Livija Medne, M. J. Welland, Patrick Reed, K. Savage, G. C. Chan, Anne C.H. Tsai, F. Maleady-Crowe, A. de Burca, Ellen M. McDonagh, T. Rogers, F. Boardman-Pretty, Emily Lancaster, Katherine R. Smith, Christopher A. Odhams, Véronique Lefebvre, M. Ryten, Olivier Pichon, D. Halai, Aleš Maver, Christine Patch, R. E. Foulger, Frédéric Bilan, Helen Stevens, Hilde Van Esch, Eleanor Williams, Brigitte Gilbert-Dussardier, C. Tregidgo, K. Witkowska, F. J. Lopez, Gwenaël Le Guyader, Richard H Scott, M. Kayikci, Ellen Thomas, E. Walsh
Publikováno v: American Journal of Human Genetics, 106(6), 830-845. CELL PRESS
Am J Hum Genet
SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e4b2005e77addcf2aa011f8a987ba7
https://www.sciencedirect.com/science/article/pii/S0002929720301245?via=ihub
Zobrazit plný text záznamu
7
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
8
Akademický článek
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.
Autor: Vrečar, Irena1, Rudolf, Gorazd1, Peterlin, Borut1, Lovrecic, Luca1 lucalovrecic@gmail.com
Publikováno v: Molecular Cytogenetics (17558166). 10/31/2015, Vol. 8, p1-4. 4p.
Zobrazit plný text záznamu
9
Akademický článek
Connexin 26 (GJB2) and connexin 30 del(GJB6-D13S1830) mutations in Slovenians with prelingual non-syndromic deafness.
Autor: Battellino, Saba1 saba.battelino@kclj.si, Rudolf, Gorazd2, Zargi, Miha1, Podkrajsek, Katarina Trebusak3, Peterlin, Borut2
Publikováno v: Journal of International Advanced Otology. 2011, Vol. 7 Issue 3, p372-378. 7p. 3 Charts.
Zobrazit plný text záznamu
10
Akademický článek
C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment.
Autor: Medica, Igor1,2 igor.medica@pu.htnet.hr, Rudolf, Gorazd1 gorazd.rudolf@medicinska-genetika.com, Balaban, Manuela1 manuela.balaban2@pu.htnet.hr, Peterlin, Borut1 borut.peterlin@guest.arnes.si
Publikováno v: BMC Ear, Nose & Throat Disorders. 2005, Vol. 5, p1-4. 4p.
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje