학술논문
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'학술논문'
에서 검색결과 232건 | 목록
1~20
Academic Journal
Fischer, Megan C.; Reis, Linda M.; Lenberg, Jerica; Friedman, Jennifer; Seese, Sarah E.; Muheisen, Sanaa; Writzl, Karin; Golob, Barbara; Peterlin, Borut; Semina, Elena V.
Human Genetics and Genomics Advances. 7(1)
Academic Journal
Egyptian Journal of Forensic Sciences. 15(1)
Academic Journal
Orphanet Journal of Rare Diseases. 20(1)
Academic Journal
Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio; Peterlin, Borut; Oliveira, Carla; Writzl, Karin; Houge, Gunnar Douzgos; Cordier, Christophe; Howard, Heidi; Macek, Milan; Melegh, Béla; Mendes, Alvaro; Radojkovic, Dragica; Rial-Sebbag, Emmanuelle; Ulph, Fiona; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics
European Journal of Human Genetics. 30(5):493-495
Academic Journal
Writzl, Karin; Škrjanec Pušenjak, Maruša; Jus, Matevž; Maver, Aleš; Pečarič Meglič, Nuška; Peterlin, Borut; Leonardis, Lea
Genes. September, 2025, Vol. 16 Issue 9
Academic Journal
Journal of Cardiovascular Translational Research. 18(1):110-120
Academic Journal
Clinical Genetics. 106:500-504
Academic Journal
Elkhateeb, Nour ; Crookes, Renarta ; Spiller, Michael ; Pavinato, Lisa ; Palermo, Flavia ; Brusco, Alfredo ; Parker, Michael ; Park, Soo-Mi ; Mendes, Ariana Costa ; Saraiva, Jorge M. ; Hammer, Trine Bjørg ; Nazaryan-Petersen, Lusine ; Barakat, Tahsin Stefan ; Wilke, Martina ; Bhoj, Elizabeth ; Ahrens-Nicklas, Rebecca C. ; Li, Dong ; Nomakuchi, Tomoki ; Brilstra, Eva H. ; Hunt, David ; Johnson, Diana ; Mansour, Sahar ; Oprych, Kathryn ; Mehta, Sarju G. ; Platzer, Konrad ; Schnabel, Franziska ; Kiep, Henriette ; Faust, Helene ; Prinzing, Gillian ; Wiltrout, Kimberly ; Radley, Jessica A. ; Serrano Russi, Alvaro H. ; Atallah, Isis ; Campos-Xavier, Belinda ; Amor, David J. ; Morgan, Angela T. ; Fagerberg, Christina ; Andersen, Ulla A. ; Andersen, Charlotte B. ; Bijlsma, Emilia K. ; Bird, Lynne M. ; Mullegama, Sureni V. ; Green, Andrew ; Isidor, Bertrand ; Cogné, Benjamin ; Kenny, Janna ; Lynch, Sally A. ; Quin, Shauna ; Low, Karen ; Herget, Theresia ; Kortüm, Fanny ; Levy, Rebecca J. ; Morrison, Jennifer L. ; Wheeler, Patricia G. ; Narumanch, TaraChandra ; Peron, Kristina ; Matthews, Nicole ; Uhlman, Jillian ; Bell, Lauren ; Pang, Lewis ; Scurr, Ingrid ; Belles, Rebecca S. ; Salbert, Bonnie Anne ; Schaefer, Gerald Bradley ; Green, Sarah ; Ros, Andrea ; Rodríguez-Palmero, Agustí ; Višnjar, Tanja ; Writzl, Karin ; Vasudevan, Pradeep C. ; Balasubramanian, Meena
In Genetics in Medicine March 2025 27(3)
Academic Journal
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
Genome Medicine. 16(1)
Academic Journal
PLoS ONE. November 4, 2024, Vol. 19 Issue 11, e0313121
Editorial & Opinion
Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefansdottir, Vigdis; van El, Carla; Genuardi, Maurizio; Peterlin, Borut; Oliveira, Carla; Writzl, Karin; Houge, Gunnar Douzgos; Cordier, Christophe; Howard, Heidi; Macek, Milan; Melegh, Béla; Mendes, Alvaro; Radojkovic, Dragica; Rial-Sebbag, Emmanuelle; Ulph, Fiona; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics
European Journal of Human Genetics. 31(3):279-281
Academic Journal
Peterlin, Ana; Bertok, Sara; Writzl, Karin; Lovrečić, Luca; Maver, Aleš; Peterlin, Borut; Debeljak, Maruša; Nosan, Gregor
Life (Basel). September, 2024, Vol. 14 Issue 9
Academic Journal
Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona ; Masi, Alessio ; Hambleton, Sophie ; Argilli, Emanuela ; Conti, Valerio ; Giubbolini, Simone ; Barrick, Rebekah ; Bergant, Gaber ; Writzl, Karin ; Bijlsma, Emilia K. ; Brunet, Theresa ; Cacheiro, Pilar ; Mei, Davide ; Devlin, Anita ; Hoffer, Mariëtte J.V. ; Machol, Keren ; Mannaioni, Guido ; Sakamoto, Masamune ; Menezes, Manoj P. ; Courtin, Thomas ; Sherr, Elliott ; Parra, Riccardo ; Richardson, Ruth ; Roscioli, Tony ; Scala, Marcello ; von Stülpnagel, Celina ; Smedley, Damian ; Torella, Annalaura ; Tohyama, Jun ; Hamada, Keisuke ; Ogata, Kazuhiro ; Suzuki, Takashi ; Sugie, Atsushi ; van der Smagt, Jasper J. ; van Gassen, Koen ; Valence, Stephanie ; Vittery, Emma ; Malone, Stephen ; Kato, Mitsuhiro ; Matsumoto, Naomichi ; Ratto, Gian Michele ; Guerrini, Renzo
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Academic Journal
Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; van der Smagt, Jasper J.; van Gassen, Koen; Telethon Undiagnosed Diseases Program (TUDP) consortium; TMEM63B collaborators, The Genomics England Research Consortium
Academic Journal
Journal of Community Genetics. 12(2):247-256
Conference
Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; Accorsi, Patrizia; Adam, M. P.; Avela, Kristina; Badura-Stronka, Magdalena; Bayat, Allan; Clayton-Smith, J; Cordelli, Duccio Maria; Cuturilo, Goran; Di Pisa, Veronica; Garcia, J. Dupont; Gastaldi, Roberto; Giordano, L.; Guala, Andrea; Hoei-Hansen, Christina Engel; Inaba, Mie; Iodice, Alessandro; Nielsen, Jens Erik Klint; Kuburovic, Vladimir; Lazalde-Medina, Brissia; Malbora, Baris; Mizuno, Seiji; Moldovan, Oana; Møller, Rikke Steensbjerre; Muschke, Petra; Pantaleoni, Chiara; Piscopo, Carmelo; Poch-Olive, Maria Luisa; Prpic, Igor; Purificacion, M.; Raviglione, Federico; Ricci, Emilia; Scarano, Emanuela; Smigiel, Robert; Tanteles, George; Tarani, Luigi; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha A; Writzl, Karin; Callewaert, Bert; Savasta, Salvatore; Street, Maryann; Iughetti, Lorenzo; Bernasconi, Sergio; Rossi, P. Giorgi; Garavelli, Livia
Ivanovski, I, Djuric, O, Broccoli, S, Caraffi, S, Accorsi, P, Adam, M P, Avela, K, Badura-Stronka, M, Bayat, A, Clayton-Smith, J, Cordelli, D, Cuturilo, G, Di Pisa, V, Garcia, J D, Gastaldi, R, Giordano, L, Guala, A, Hoei-Hansen, C, Inaba, M, Iodice, A, Nielsen, J, Kuburovic, V, Lazalde-Medina, B, Malbora, B, Mizuno, S, Moldovan, O, Moller, R, Muschke, P, Pantaleoni, C, Piscopo, C, Poch-Olive, M, Prpic, I, Purificacion, M, Raviglione, F, Ricci, E, Scarano, E, Smigiel, R, Tanteles, G, Tarani, L, Trimouille, A, Valera, E, Vergano, S, Writzl , K, Callewaert, B, Savasta, S, Street, M, Iughetti, L, Bernasconi, S, Rossi, P G & Garavelli, L 2020, ' Mowat-Wilson syndrome: growth charts ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, P11.61.A, pp. 471-473 .
Academic Journal
Vodnjov, Nina; Toplisek, Janez; Maver, Ales; Cuturilo, Goran; Jaklic, Helena; Teran, Natasa; Visnjar, Tanja; Skrjanec Pusenjak, Marusa; Hodzic, Alenka; Miljanovic, Olivera; Peterlin, Borut; Writzl, Karin
PLoS ONE. December 5, 2023, Vol. 18 Issue 12, e0294969
Academic Journal
D'Apice, Maria-Rosaria; Daffara, Thomaso; Scherer, Thomas; Magno, Silvia; Wabitsch, Martin; ÖZEN, SAMİM; Sbraccia, Paolo; Stumvoll, Michael; Fasshauer, Mathias; Broekema, Marjoleine; Vantyghem, Marie-Christine; Beghini, Mariana; Kleinendorst, Lotte; Miehle, Konstanze; Heldt, Katrin; Writzl, Karin; Carel, Jean-Claude; Stotl, Iztok; Jeru, Isabelle; YILDIRIM ŞİMŞİR, ILGIN; Novelli, Giuseppe; Ceccarini, Giovanni; Latanzi, Giovanna; Aimaretti, Gianluca; Nagel, Gabriele; Prodam, Flavia; Santini, Ferrucio; Csajbok, Eva; Nobecourt, Estelle; Silva, Ermelinda Santos; Vorona, Elena; Sorkina, Ekaterina; Bismuth, Elise; Gilio, Donatella; Savage, David; Araujo-Vilar, David; Vigoroux, Corrine; Adiyaman, Cem; Cecchetti, Carolina; Vatier, Camille; AKINCI, BARIŞ; Fernandez-Pombo, Antia; Gambinieri, Alessandra; von Schnurbein, Julia; PEKKOLAY, ZAFER
Academic Journal
Jennifer A. Wambach; Georg M. Stettner; Tobias B. Haack; Karin Writzl; Andreja Škofljanec; Aleš Maver; Francina Munell; Stephan Ossowski; Mattia Bosio; Daniel J. Wegner; Marwan Shinawi; Dustin Baldridge; Bader Alhaddad; Tim M. Strom; Dorothy K. Grange; Ekkehard Wilichowski; Robin Troxell; James Collins; Barbara B. Warner; Robert E. Schmidt; Alan Pestronk; F. Sessions Cole; Robert Steinfeld
Human Mutation. 38:1477-1484
Academic Journal
Ahmed, Ashfaque; Wang, Meng; Bergant, Gaber; Maroofian, Reza; Zhao, Rongjuan; Alfadhel, Majid; Nashabat, Marwan; AlRifai, Muhammad Talal; Eyaid, Wafaa; Alswaid, Abdulrahman; Beetz, Christian; Qin, Yan; Zhu, Tengfei; Tian, Qi; Xia, Lu; Wu, Huidan; Shen, Lu; Dong, Shanshan; Yang, Xinyi; Liu, Cenying; Ma, Linya; Zhang, Qiumeng; Khan, Rizwan; Shah, Abid Ali; Guo, Jifeng; Tang, Beisha; Leonardis, Lea; Writzl, Karin; Peterlin, Borut; Guo, Hui; Malik, Sajid; Xia, Kun; Hu, Zhengmao
Human Genetics. :1-14
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