Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Igor, Prpic"'
Autor:
Sofia Tagliaferro, Sara Maio, Federico Pirona, Ilaria Stanisci, Giuseppe Sarno, Patrizia Silvi, Marianthi Kermenidou, Nafsika Papaioannou, Reena Perchard, Igor Prpic, Kinga Polanska, Joanna Jerzynska, Elisabete Ramos, Joaquim Rovira, Jordina Belmonte, Janja Snoj Snoj Tratnik, Milena Horvat, David Kocman, Zdravko Spiric, Jacqueline Zickella, Salvatore Fasola, Stefania La Grutta, Velia Malizia, Laura Montalbano, EarlyFOOD, HEALS EXHES, Sandra Baldacci, Isabella Annesi-Maesano
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Due to the increasing importance of exposome in environmental epidemiology, feasibility and usefulness of an Environmental Data Management System (EDMS) using Open Data was evaluated. The EDMS includes data from 10 European cities (Celje (Sl
Externí odkaz:
https://doaj.org/article/4b4281be711e4b1cbeca1fc59fa8cf01
Autor:
Isabella Brambilla, José Ángel Aibar, Anne Sophie Hallet, Irena Bibic, Elena Cardenal‐Muñoz, Igor Prpic, Francesca Darra, Nicola Specchio, Rima Nabbout
Publikováno v:
Epilepsia Open, Vol 6, Iss 1, Pp 216-224 (2021)
Abstract We explored the impact of coronavirus virus 2019 (COVID‐19) pandemic on patients with Dravet syndrome (DS) and their family. With European patient advocacy groups (PAGs), we developed an online survey in 10 languages to question health sta
Externí odkaz:
https://doaj.org/article/9a230068502c43e4ac1d353b0195639c
Autor:
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and
Externí odkaz:
https://doaj.org/article/80124a98602c4794863224c650289c08
Autor:
Lucija Ruzman, Ivana Kolic, Jelena Radic Nisevic, Antonija Ruzic Barsic, Ingrid Skarpa Prpic, Igor Prpic
Publikováno v:
Upsala Journal of Medical Sciences, Vol 124, Iss 4, Pp 273-277 (2019)
Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and
Externí odkaz:
https://doaj.org/article/41b2b4f82f384be581de0f99110d3ece
Autor:
Antonela Blazekovic, Kristina Gotovac Jercic, Sarah Meglaj, Vlasta Duranovic, Igor Prpic, Bernarda Lozic, Masa Malenica, Silvana Markovic, Lucija Lujic, Zeljka Petelin Gadze, Romana Juraski, Nina Barišic, Ivo Baric, Fran Borovecki
Publikováno v:
Genes; Volume 13; Issue 8; Pages: 1466
Genes
Volume 13
Issue 8
Genes
Volume 13
Issue 8
Epilepsy is one of the most common neurological disorders with diverse phenotypic characteristics and high genetic heterogeneity. Epilepsy often occurs in childhood, so timely diagnosis and adequate therapy are crucial for preserving quality of life
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81a5f6c8738873530eaa110e22c1e7cf
https://doi.org/10.3390/genes13081466
https://doi.org/10.3390/genes13081466
Autor:
Igor, Prpic, Jelena, Radic Nišević, May, Obrovac Glišić, Ivana, Kolic, Jelena, Begic, Jelena, Margetic
Publikováno v:
In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e33-e33
Publikováno v:
In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e98-e98
Autor:
Sanja, Zaputovic, Tea, Stimac, Igor, Prpic, Vesna, Mahulja-Stamenkovic, Igor, Medica, Borut, Peterlin
Publikováno v:
Croatian medical journal. 46(5)
To determine the proportion of newborns diagnosed with hearing impairment through the hearing impairment screening program in newborns, and the frequency of 35delG/GJB2 mutation as a cause of hearing impairment. The results of the study imply the int
Autor:
Olivera Aleksic, Milica Pejovic-Milovancevic, Smiljka Popovic-Deusic, Biljana Pirgic, Ivana Sojic, Christoph Correll, Umesh Parikh, Vladimir Olshanskiy, Bhrigu Chopra, John M. Kane, Anil K. Malhotra, Sonja Sieslack, Gottfried Maria Barth, Gunther Klosinski, Sheila Sadigorsky, Sefi Kronenberg, Amos Frisch, Nicola Williams, Bruce Tonge, Neville King, Glenn Melvin, Amanda Dudley, Michael Gordon, Ester Klimkeit, Simon Hatch, John Breddy, Heleen DeCory, Sara Cameron, Mary Solanto, Maria Serra-Pinheiro, Isabella Sousa, Paulo Mattos, Fernanda Gomes, Giuseppe Pastura, Desna Milinkovic, Oliver Bilke, Sibille Kühnel, Bernhard Winterfeld, John Campo, James Perel, David Axelson, Jeff Bridge, Boris Birmaher, Neal Ryan, David Brent, Edmund J. S. Sonuga-Barke, Dorothea Y. Sanchez, Mani Pavuluri, David B. Henry, Julie A. Carbray, Gwendolyn Sampson, Michael W. Naylor, Philip G. Janicak, Stefan Gebhardt, Frank Theisen, Michael Haberhausen, Monika Heinzel-Gutenbrunner, Peter Wehmeier, Jürgen-Christian Krieg, Wolfgang Kühnau, Jörg Schmidtke, Helmut Remschmidt, Johannes Hebebrand, Hans-Willi Clement, Christian Fleischhaker, Klaus Hennighausen, Eberhard Schulz, Reiner Frank, Belda Karamete, Gunnel Löndahl, Peik Gustafsson, Anneli Parnegdrd, Giancarlo Rigon, Simona Chiodo, Alessandra Mancaruso, Daniele Giovanni Poggioli, Stefano Costa, Pedro Pires, Isabel Brito, Isabel Carvalho, Sara Almeida, Paula Zaragoza, Yury Shevchenko, Vasilisa Korneeva, Miodrag Stankovic, Aneta Lakic, Vesna Milovanovic, Sandra Stankovic, Bernard Hobrücker, Filip Caby, Jean Chambry, Stéphane Laudrin, Catherine Graindorge, Arata Oiji, Yukiko Morioka, Ami Murata, Madoka Sato, Yume Hashizume, Katarina Müller, Willigis Werner, Matthias Martin, Eva Mattejat, Myriam Olivieri, Annalisa Simoncini, Sonia Marchegiani, Marco Lazzorotto Muratori, Gabriele Borsetti, Shewikar Farrag, Riccardo Coltrinari, Doa Habib, Daniel Fung, Nelson Lee, Susanne Ohmann, C. Popow, M. Lanzenberger, H. Herzog, S. Schuch, S. Miksch, Fatemeh Abdollahy, S. Khani, B. Shabankhani, Joao Guerra, Claudia Fontes, Vania Martins, Ana Teles, Corina Rodrigues, Zulmira Correia, Gereon Becht-Jördens, Catherine McElearney, Michael Fitzgerald Henry Marsh, Alexander Naumann, Dirk Holst, Annette Engbarth, Tiberiu Mircea, Ashima Nehra, Savita Malhotra, Subho Chakrabarti, Shashi Kiran, Srinath Shoba, Allan Hvolby, Jan Ib Jorgensen, Marco Medeiros, Ariete Correia, Maria Gabilondo, Pedro Caldeira da Silva, Augusto Carreira, Jae-Won Yang, Yeoung-Rang Kim, Sung-Do David Hong, Sang-Sin Lee, Seong-Hu Lim, Jeoung-Hwan Park, Vera Trbic, Danica Boskovic, Jan Pauschardt, Fritz Mattejat, Kurt Quaschner, Erika Lischka, Mechthild Bauer, Franka Petzke, Britta Wehrmann, Sigita Lesinskiene, Laura Paskauskaite, Luisa Garcia-Giralda Bueno, Juana Montiel Gonzales, Javier Gallego Cumbres, Francisco Gutierrez Asensio, Susanne Denoix, Franz Kimmig, Marc Weinhardt, Peter Greven, Stefan Buchmann, Nurgül Atas, Ute Jonkanski, Bodo Pisarsky, Silvia Treuter, Josep Cornellà, Alex Llusent, Lara Condesso, António Trigueiros, Klaus Schütz, Michael Tarren-Sweeney, Philip Hazell, Luigi Mazzone, Diego Mugno, Liliana Ruta, Valentina Genitori D’Arrigo, Perrotta Concetta Simona, Teresa Mattina, Domenico Mazzone, Ralf Nordbeck, Wolfgang Gierow, Frank Haessler, Johannes Buchmann, Lucia Bliznakova, Yvonne Grimmer, H. J. Roth, Christine Jennen-Steinmetz, Martin H. Schmidt, Katja Becker, Andrea G. Ludolph, Alexander Storch, Tobias Boeckers, Joachim Kirsch, Jörg M. Fegert, Oksana Drevitska, Carlo Cianchetti, Simona Corona, Maria Foscoliano, Daniela Contu, Giuseppina Sannio Fancello, Anna Costa, Mara Roello, Angela Romano, Anna Fabrizi, Andrea Pelliccia, Maria Matricardi, Nickola Matthias, Timo Lesnick, Matthias Gass, Linyan Su, Jishui Zhang, Dazing Wu, Xuerong Luo, Ignazio Ardizzone, Paola D’Oto, Francesca Priskich, Elvira Rigillo, Nadia Tomassetti, Francesca Vagnoni, Beate Sabisch, Anja Hahne, Lisa Glass, Angela D. Friederici, Waldemar von Suchodoletz, Carlo Di Brina, Andrea Pagnacco, Flavia Capozzi, Roberta Penge, Fabio Bocci, Laura Cantonetti, Alessandra De Carlo, Barbara Scanferla, Teresa Sebastiani, Cristina Vagnoni, Xueping Gao, Yasong Du, Fabio Lorenzetti, Michael von Aster, Martin Schweiter, Karin Kucian, Thomas Loenneker, Thomas Dietrich, Ernst Martin-Fiori, Hesham Abuhegaz, Hashem Bahary, Dae-Hwan Lee, Bong-Seog Kim, Seong-Ill Jeon, Sun-Lu Chung, Maria Conceicao Taborda da Simoes, Maria Luz Vale da Dias, Ulf Engqvist, Per-Anders Rydelius, Maria Dores das Formosinho, Ana Monica Pinto, Luiza Nobre Lima, Tobias Edbom, Jan-Olov Larsson, Paul Lichtenstein, Bernardo Perez, Macarena Marin, Su-Jin Yang, Helen Lee, Kyung-Sun Noh, Ferdinand Keller, Lutz Goldbeck, Ghizlane Benjelloun, Dirk Dhossche, Sara Stanfill, Akiko Takahara, Minemitsu Kusu, Sumiko Watanabe, Tatsuya Matsui, Kengo Ikeda, Hiroe Matsuda, Hiie Allik, Hans Smedje, Sadaaki Shirataki, Bonko Murakami, Rawheya Ahmad Mohamed, Fiona Dunbar, Sarah Shea, Mariko Atsumi, Hideo Matsumoto, Akitoshi Ooya, Seiji Koishi, Yutaka Aoki, Youichi Enseki, Yuri Nakamura, Kostas Francis, Vassilis Kazaridis, Panagiota Kirillidou, Sofia Koukouvinou, Sobharani Paliwal, Parkview Clinic, William Whitehouse, Margo Edwards, Ayliffe Edwards, Sunita Pandit, Judith Powell, Mehdi Tehrani-Doost, Mitra Sepasi, Javad Alaghband-Rad, Reza Rad Goodarzi, Masaki Kodaira, Andrea Viertler, Katja Elpel, Olaf Reis, Melda Ayse Akçakn, Gulsen Erden, Efser Kerimoglu, Eric Lemonnier, Toshio Munesue, Kouhei Mutoh, Kazunori Shimoda, Hideo Nakatani, Yoshifumi Koshino, Isabell Germerott, Eman Galal Sadek, A. G. Litvinov, Froylan Calderón-Castaneda, Alberto Enrique Nuno-Licona, Efren Alatorre-Miguel, Kirstin Goth, Klaus Schmeck, Sibylle Winter, Anja Wiegard, Günter Hinrichs, Denis Köhler, Martin Kammerer, Diana Adams, Brida von Castelberg, Alyx Taylor, Maj-Britt Posserud, Kjell Morten Stormark, Astri J. Lundervold, Christopher Gillberg, Maaike Steijnen, Sophie Verhoeven, Ivana Francula, Igor Prpic, Rena Volga, Stefania Di Biasi, Francesca Piperno, Filomena Puleo, Sara Cerracchio, Roberta Giacchè, Zoé Rein, Nathalie Godart, Fabienne Perdereau, Florence Curt, Philippe Jeammet, Jacques Fermanian, Emine Ozgur Bayman, Yesim Taneli, Neslim Guvendeger, Bulent Ediz, Suna Taneli, Ismet Kan, Angela Plaß, Claus Barkmann, B. Mack, K. Mittenzwei, Peter Riedesser, Michael Schulte-Markwort, Veit Roessner, Andreas Becker, Nicola Hagenberg, Matthias Berking, Tobias Banaschewski, Aribert Rothenberger, Nathalie Coulon, Daniela Tardiola, Stefano Balsamo, Nadia Capriotti, Tanveer Sandhu, Tuula Tamminen, Nina Iovchuk, Ivona Milacic, Oliver Vidojevic, Ayse Kilincaslan, Nahit Motavalli Mukaddes, Gokce Sozen, Ayla Umut, Kenji Yamamoto, Shinko Koishi, Noriko Natsume, Kosuke Yamazaki, Eiji Nanba, Fabienne Naber, Emma van Daalen, Jan Buitelaar, Marinus van IJzendoorn, Sophie Willemsen-Swinkels, Marian J. BakermansKranenburg, Herman van Engeland, Maretha de Jonge, Chantal Kemner, Andrea Caby, Stefan Bendt, Vera Bashina, Maria Krasnoperova, Jan Croonenberghs, Sonja Sliwinski, Armand Christophe, Dirk Deboutte, Michael Maes, Alessia Tosco, Emanuela Giorgi, Monica Lazzarini, M. Liliana Iorio, Mercedes Becciu, Bung-Nyun Kim, Jeong In-Hyoung, Dong-Hyun Ahn, Boong-Nyun Kim, Yun-O Shin, Kang-E Hong, Michal Hrdlicka, Jiri Neuwirth, Vladimir Komarek, Marketa Havlovicova, Zdenek Sedlacek, Marek Blatny, Tomas Urbanek, Masataka Ohta, Yukiko Kano, Yoko Nagai, Anne Wintgens, Jean-Yves Hayez, Seoung-Hu Lim, Ji-Hye Ha, Hee-Jung Byun, Ji-Hae Kim, Rebecca Lee, Eric Fombonne, Eric Taylor, Füsun Çuhadaroôlu Çetin, Deborah James, Maria Lawlor, Nick Sofroniou, Kiyoko Kamibeppu, Lori Sato, Yasutaka Hoshi, Jezdimir Zdravkovic, Petar Kostic, Khalid Murafi, Michael Ries, Rainer Georg Siefen, Martin Jelinek, Helena Klimusova, Jaroslava Blizkovska, C. Burke, B. Doody, Carole Müller Nix, Ayala Nicole, Markus Wilken, Marguerite Dunitz-Scheer, Alexandra Krasnovsky, Anastasia Dressler, Valentina Perelli, Francesca Tinelli, Valentina Rafanelli, Stefania Bargagna, Gerhard Libal, Paul Plener, Jórg M. Fegert, Fumiko Enokido, Masako Higuchi, Istuki Jibiki, Martina Tomori, Hee-Jeong Yoo, Su-Yeon Kim, In-Hee Cho, Sook-Kyeong Yune, In-Kyoon Lyoo, Ji-Hyun Ha, Barbara Haas, Lyudmila Danilova, Kanita Dervic, Janos Csorba, Sandor Rozsa, Marjorie Kleinman, Laszlo Tringer, Max Friedrich, Madelyn Gould, Tuerkan Akkaya-Kalayci, Gerhard Lenz, Elisa Lapponi, Maria Carla Filipponi, Felicia Lauria, Carla Sogos, Akihide Kitamura, Bjoern Albrecht, Xianghui Zhang, Xuerong Li, Vesna Hercigonja-Novkovim, Dubravka Kocijan-Hercigonja, Stephen Ralston, Maria Lorenzo, Asmaa Amin Abdel Aziz, Joseph Biederman, Thomas Spencer, Rodney Moore, Haitao Gao, Josep Cornelld, Natasa Potocnik Dajcman, Rok Holnthaner, Guangrong Xie, Ulrike Sühlfleisch-Thurau, Frank Häßler, Margaret Tiffin-Richards, Michael Richards, Marcus Hasselhorn, Alper Bayrak, R. Rodrigues Pereira, W. Brussel, L. Vlasveld, H. G. Tuynman-Qua, M. J. Lorenzo, Dong-Ho Song, Eun-Hye Ha, Eun-Sik Lee, Young-Min Yu, Hans-Theo Weiler, Heike Hellrung, Caro Grünling, Stephan Overmeyer, Markus Ligges, Bernhard Blanz, Armin Claus, Susanne Walitza, Peter Scheuerpflug, Christoph Wewetzer, Manfred Gerlach, Andreas Warnke, Mieko Aoki, Shozo Aoki, Masato Takii, Yasuko Uchigata, Takehiro Nozaki, Keisuke Kawai, Shu Takakura, Chikako Koreeda, Chiharu Kubo, Hitoshi Saino, Kenzo Denda, Kouichi Ito, Satoshi Asakura, Yukiya Sasaki, Fumi Sasaki, Seishiro Inoue, Sonja Werneck-Rohrer, Ernst Eveline, Heidrun Eichberger, Carolin Prause, Bibiana Schuch, Andreas Lamerz, Jutta Kuepper-Nybelen, Christine Wehle, Gabriele Trost-Brinkhues, Hermann Brenner, Beate Herpertz-Dahlmann, Beata Pawlowska, Maria Chuchra, Marta Kaczynska-Haladyj, Ulrike Margarete Elisabeth Schulze, Simone Schuler, Dieter Schlamp, Peter Schneider, Christian Reiners, Chihiro Morita, Anatoly Severny, Victor Brutman, Irina Kireeva, Marc Schmid, Antje Zander, Marta Kaczynska-Haladyi, Nicole Bruning, Gabriele TrostBrinkhues, Christian Popow, Andreas Karwautz, Sylvia Eimecke, Kristian Holtkamp, Anna Capasso, Masaki Seki, Yu Wakabayashi, Ken Takaoka, Marc G. Schmid, Claudia Zerahn-Hartung, Kayo Morioka, Jan Nedoschill, Peter Leiberich, Thomas Loew, Jae-Suk Jung, Young-Sik Lee, Sun-Ju Chung, Tae-Won Park, Alba Sunshine Bettoschi, Pasquale Carboni, Soo-Churl Cho, Jeong-Mee Ahn, Kang-E. Hong, Jan Elena Kassubek, Sylvia Quiner, Michaela Seyering, Max H. Friedrich, Ana Radojkovic, Ana Velimirovic, Sherese Ali, Kevin Parker, Zarko Martinovic, Nadezda Krstic, Nevenka Buder, Veronika Ispanovic, Ewa Mojs, Maria Danuta Glowacka, Junko Hayashi, Syunichi Funakosi, Takamichi Kamiyama, Takashi Ueno, Tomohiro Ishii, Yutaka Hayashi, Hiroo Matsuoka, William Gardner, Amanda Lucas, David Kolko, Kelly Kelleher, Maria Claustre Jané Ballabriga, Sergi Ballespi Sola, Montse Dorado, Natalia Diaz Reganon, Maite Gonzalez Alonso, Maria Dolores Riba, Edelmira Domenech Llaberia, Kayano Ishii, Kayo Inoko, Aya Nishizono-Maher, Makiko Osawa, Mari Kasahara, Kazuhiko Saitou, Satomi Murase, Risa Oga, Takashi Murakami, Shuji Honjo, Hitoshi Kaneko, Shiori Arai, Sabine Völkl-Kernstock, Sonja Bauch-Prater, Martha Feucht, Paula Vilariça, Isadora Pereira, Olivia Pastor, Susana Farinha, Pedro Caldeira, Maria Antónia Silva, Caterina Gawrilow, Peter M. Gollwitzer, Keun-Ah Cheon, Young-Hoon Ryu, Jae-won Kim, Alceu Gomes Correia Filho, Luis Augusto Rohde, Tatiana Silva, Rafael Bodanese, Michael Aman, W. Boudewijn Gunning, Manfred Laucht, Mahha El-Faddagh, Martin Schmidt, Jakob Nützel, Juliane Ball, Cornelia Elben, Halina Kadziela-Olech, Taewon Park, Myung Ho Im, Daehee Kang, Hee Jeong Yoo, David Michelson, Shuyu Zhang, Dustin Ruff, Peter Feldman, Niels Bilenberg, Jurgen Jensen, Azar Moradi, Vahed Alaey, Christopher Kratochvil, Timothy Wilens, Laurence Greenhill, Douglas Gelowitz, Leon Patrice Celestin, Smadar Celestin-Westreich, Somnath Banerjee, M. Chandola, S. Venables, Hideki Negoro, Junzo Lida, Hidemi Iwasaka, Masanori Kyo, Tatsushi Nagano, Kanae Kishino, Toshihumi Kishimoto, Bong-Suk Kim, Jun-Won Hwang, Masanori Kyoh, Lida Junzo, Negoro Hideki, Nagano Tatsushi, Kishino Kanae, Iwasaka Hidemi, Kishimoto Toshifumi, Rael Strous, Simion Kertzman, Z. Ben Nachum, Moshe Kotler, Roni Hegesh, David Coghill, Quentin Spender, Joanne Barton, Chris Hollis, Cammy Yuen, Irina Cleemput, Lieven Annemens, Susanne Eschmann, Karl Christoph Käppler, Maycoln M. L. Teodoro, Eva Stieger, Anouk Mugier, Stephanie Stüttler, Cord Alexander Heise, Henrik Uebel, Charlotte Hanisch, Kerstin Konrad, Ralph Radach, Dagmar Horn, Noa Tsujii, Akira Okada, Noriko Kuriki, Junko Matsuo, Kazushi Hanada, Takeshi Kusube, Kazuhiko Hitomi, Marcelo Schmitz, Daniel Denardin, Tatiana da Silva, Thiago Pianca, Tatiana Roman, Mara Hutz, Asma Bouden, Ines Dengezli, Mohamed Halayem, Oscar Herreros, Francisco Sanchez, Belen Rubio, Ramon Gracia, Simone Henrike Weber, Alex Wolters, Albert J. Allen, Roger Kurlan, Donald Gilbert, David Dunn, F. Randy Sallee, Christine Thomason, Virginia Sutton, Denai Milton, Dorthe Petersen, Solvejg Kristensen, Jörg Kinkelbur, Juliane Hellwig, Martin Hellwig, Eckert Rüther, Olayinka Omigbodun, O. Esan, K. Bakare, B. O. Yusufi, F. Nuhu, A. Adesokan, Marie Kopecky-Wenzel, Mark-Peter Steenhuis, Ruud Minderaa, Marie-Louise Körlof, Margit Wängby, Lars R. Bergman, Suwei Yu, Petteri Multimäki, Kai Parkkola, Andre Sourander, Georgios Nikolakaros, Hans Helenius, Carina Freitas, Assunçâo Rocha, Lídia Pocinho, Shinichi Arai, Hironobu Ichikawa, Ikuko Hirosawa, Maria Elena Mdrquez-Caraveo, Verónica Pérez-Barrón, Merete Juul Sorensen, Ole Mors, Per Hove Thomsen, Kai von Klitzing, Sonja Perren, Agnes von Wyl, Dieter Burgin, Han-Ik Yoo, Min-Sup Shin, Kang E. Hong, Ehsan Syed, Sobia Haqqi, Michail Semago, Sigita Girdzijauskiene, Dainius Puras, Grazina Gintiliene, Dovile Cerniauskaite, Christiane Bormann-Kischkel, Rosemarie Schmoetzer, Diana Frischholz, Martin Linder, Catharina Ganseforth, Daniela Rödder, Angela Kribs, Frank Pillekamp, Alexander von Gontard, Bernhard Roth, Tjhin Wiguna, Cristina Maria Ribeiro Marques, Teresa Goldschmidt, Teresa Cepeda, Ayse Arman, Refika Ersu, Dilsad Save, Goksin Karaman, Koray Karabekiroglu, Bulent Karadag, Meral Berkem, Lene Ruge Moller, Parathasarathy Biswas, Anil Malhotra, Nitin Gupta, Tord Ivarsson, Oeystein Litlere, Per Svalander, Yelena Yelikova, Petar Nastasic, Snezana Filipovic, Roza Panoski, Goran Lazetic, Nataliya Zvereva, Monika Strauss, A. Graf, R. Zollinger, Tanja Brückl, Michael Höfler, Lena Schwenden, Hans-Ulrich Wittchen, Roselind Lieb, Angelika Schweitzer, Jane Edwards, Monika Schlögelhofer, Paul G. Amminger, Maria Giuseppina Ledda, A. Zuddas, T. Piroddi, M. Abis, A. Mereu, Fabian Härtling, Ralf Tepest, Tanja Goncharova, David E. D. Linden, Peter Falkei, Kai Vogeley, Fritz Poustka, Miriam Spinner, Julian Dobranowski, Duncan MacCrimmon, Jim Gibson, Susan Fawcett, Margarita Criollo, Brigitte Ramsauer, Nina Janke, Danica Boskovic Djukic, Fabiola Napoli, Raffaella Valente, Valeria Neri, Mauro Ferrara, Carla D’Agostini Costa, Christian Veronesi, Sergio Melogno, Achille Gigliotti, Bruna Mazzoncini, Antonio Fonseca, Eva Maid, Erika Hohm, Claudia Mehler-Wex, J. Catharina Duvigneau, Romana T. Hartl, Dorit Ben-Shachar, Harvey Kranzier, Sanjiv Kumra, Ginny Gerbino-Rosen, David Roofeh, Courtney De Thomas, Carolyn Dombrowski, Marjorie McMeniman, Hsueh-Ling Chang, Sue-Huei Chen, Keh-Chiang Yu, Michael Kölch, Reinhild Bücheler, Christoph H. Gleiter, Stephanie P. Bohne, Frank M. Häßler, Bärbel Gierow, Julie Carbray, Sampson Gwen, Michael Naylor, Anja Taanila, Katri Hautala, Päivi Kemppainen, Arto Kotimaa, Hanna Ebeling, Irma Moilanen, Monica Biscaldi, Bettina Wagner, Ute Dürrwächter, Susanne Trauzettel-Klosinski, Jens Reinhard, Ellen Plume, Gerd Schulte-Körne, Branko Aleksic, Regula Blaser, Ulrich Preuss, Claudia Meusel, Georg Macharey, Ulrich Strehlow, Johann Haffner, Jürgen Bischof, Volker Gratzka, Peter Parzer, Franz Resch, Steffi Sachse, Beatrice Anke, Monika Adamski, Angelika Pecha, Dragana Macesic-Petrovic, Svetlana Slavnic, Chie Hatagaki, Hanna Swaab, P. Cohen-Kettenis, Roberta Di Scipio, Ester Patruno, Sylvia Reinelt-Straka, Liselotte Hoffmann, Max H. Friedrich Dragana, Macesic Petrovic, Monique Nesa, David Hay, Clare Roberts, Mairead McCoy, Harriet Salbach, Uta Klopfer, Swantje Hagen, Bürger Arne, Ulrike Lehmkuhl, Bradley Smith, Judith Sinzig, Martin Hohmann, Takayo Mukai, Pia Enebrink, Niklas Ldngström, Henrik Andershed, Louis Richer, Lise Lachance, Claude Dubé, Serge Saintonge, Matti Virkkunen, Jyrki Liesivuori, Risto Bloigu, Jari Tiihonen, Alasdair Vance, Chidambaram Prakash, Magali Reyes-Harde, Krisztina Csaba, Marielle Eerdekens, Roza Olah, Ilse Augustyns, Ulrike Hellmann, Astrid Matei, Ji Hyun Ha, In Hee Cho, Mee Gyeong Kim, Sook Kyeong Yune, In Kyoon Lyoo, Bruce Barbro, Guilherme Polanczyk, Zineb Iraqi, Nadia Kadri, Driss Moussaoui, Kamal Raddaoui, Karl Titze, Susanne Wollenweber, Verena Nell, Andreas Wiefel, Margarita Forcada Guex, Basaran Sezer, Farshid Shamsaei, Fatemeh Cheraghi, Oytun Hasturk, Mehmet Okan, Naoko Sato, Aya Sato, Eleonora Camillo, Viviana Porcari, Maria Patrizia Salatiello, Sabrina Chifari, Valentina Dell’Oglio, Militello Rosanna, Carmela Scrò, Lisette Hart-Kerkhoffs, A. Ph. van Wijk, L. M. C. Jansen, Robert Vermeiren, Theodore Doreleijers, Shi Ji Zhang, Reija Latva, Liisa Lehtonen, Raili Salmelin, Emmanouel Tsalamanios, Gerasimos Kolaitis, Elena Paliokosta, Stauroula Diareine, Sofia Anasontzi, Alkis Tsiantis, Irini Limbinaki, John Tsiantis, Leontina Dreana-Ianciu, Miriana Vrajitoriu, Laura Lebedeva, Yasemen Taner, Betul Bakkaloglu, Füsun Çuhadaroâlu Çetin, Cengiz Ozbesler, Mihriban Erturk, Sandra Sebre, Audrey Keller, Ayala Borghini, Blaise Pierrehumbert, François Ansermet, Adrian Furnham, Peter Noack, Bruce Kirkcaldy, Michaela Felber, Stefan Puig, James Swain, James Leckman, Linda Mayes, Ruth Feldman, Robert Constable, Robert Schultz, Evgeny Koren, Umaporn Trangkasombat, Michael Karle, Marina Belianchikova, Galina Scoblo, Valentin Fadeev, Lyne Jaunin, Francois Ansermet, Tatsuo Ujiie, Kenji Nomura, Yasuko Sasaki, Vaska Stancheva-Popkostadinova, Meglena Achkova, Emine Kilic, Gönül Erdogan, Rami Gaber, Areej Qasqas, Martin Aßhauer, Hubertus Adam, Lynne Jones, Linda Rachidi, Kawtar Halty, Omar Battas, Agnes Leor, Shmuel Tyano, Schaul Shreiber, Nan Hosogane, Kyoto Watanabe, Makiko Okuyama, Young-Shin Kim, Bennett Leventhal, Yun-Joo Koh, W. Thomas Boyce, Sonja Liptai, Marianne Clauß, Petra Heuer, Abdul Nasser Kaadan, Samuel Menahem, Frances Salo-Thompson, Bizhan Shabankhani, Christoph Hoeger, Seong-Shim Jeong, Jeong-Hwan Park, Eduardo Szaniecki, Lise Roll-Pettersson, Patrick Ehnis, Maria Trosse, Piedade Van Rebelo, Eva Heimdahl Mattson, Giulietta Cucchiaro, Mariadonatella Cocuzza, Giada Morales, Nataliya Bobrova, Fernando Asbahr, Renato Ramos, André Costa, Roberto Sassi, Maaike Nauta, Sonila Tomori, Valbona Alikaj, A. Como, Lisa Snider, Marjorie Garvey, Dirce Zanetta, Helio Elkis, Susan Swedo, Pinar Vural, Kai Wang, Yan Zhu, Osman Sabuncuoglu, Viktoryia Krasavina, Nina Pykhtareva, Bianca Venuti, Naohiko Tachi, Naomi Kodoi, Naoko Sakamoto, Michiko Watanabe, Motiko Goto, Frank Geller, J. Reinlein, Nikolaus Barth, F. Hahn, Anke Hinney, Monika Robatzek, Rosa Calvo, Lazaro Luisa, Lucrezia Cirigliano, Loredana Lucarelli, Uwe Ratz, Thomas Stegemann, Ulla Breuer, Susanne von Widdern, Leonie Fricke, Alexander Mitschke, Alfred Wiater, Gerd Lehmkuhl, Kyoichi Honda, Muhmmad Lafta, Secil Oktem Kurultak, S. Tomori, E. Petrela
Publikováno v:
Books of Abstracts of the 16th World Congress of the International Association for Child and Adolescent Psychiatry and Allied Professions (IACAPAP) ISBN: 9783798514720
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb840729a47b0f9dbfc4787c319a9397
https://doi.org/10.1007/978-3-662-21595-1_8
https://doi.org/10.1007/978-3-662-21595-1_8
Autor:
Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta
Publikováno v:
Genetics in Medicine, 20(9), 965-975. Lippincott Williams & Wilkins
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9
PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a350d1254cd94b377a69599bd8301
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da