학술논문
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'학술논문'
에서 검색결과 16건 | 목록
1~20
Academic Journal
Stéphanie Efthymiou; Marcello Scala; Vini Nagaraj; Katarzyna Ochenkowska; Fenne L. Komdeur; Rong Liang; Mohamed S. Abdel‐Hamid; Tipu Sultan; Tuva Barøy; Marijke Van Ghelue; Barbara Vona; Reza Maroofian; Faisal Zafar; Fowzan S. Alkuraya; Maha S. Zaki; Mariasavina Severino; Kingsley C. Duru; Robert C. Tryon; Lin Vigdis Brauteset; Morad Ansari; Mark Hamilton; Mieke M. van Haelst; Gijs van Haaften; Federico Zara; Henry Houlden; Éric Samarut; Colin G. Nichols; Marie Falkenberg Smeland; Conor McClenaghan
Brain
Efthymiou, S, Scala,M , Nagaraj, V, Ochenkowska, K, Komdeur, F L, Liang, R A, Abdel-Hamid, M S, Sultan, T, Barøy, T, Van Ghelue, M , Vona, B, Maroofian, R, Zafar, F, Alkuraya, F S, Zaki, M S, Severino, M , Duru, K C, Tryon, R C, Brauteset, L V, Ansari, M , Hamilton, M , van Haelst, M M , van Haaften, G, Zara, F, Houlden, H, Samarut, É, Nichols, C G, Smeland , M F & McClenaghan, C 2024, 'Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome', Brain, vol. 147, no. 5, pp. 1822-1836. https://doi.org/10.1093/brain/awae010
Efthymiou, S, Scala,
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
Francesca Peluso; Stefano G Caraffi; Gianluca Contrò; Lara Valeri; Manuela Napoli; Giorgia Carboni; Alka Seth; Roberta Zuntini; Emanuele Coccia; Guja Astrea; Anne-Marie Bisgaard; Ivan Ivanovski; Silvia Maitz; Elise Brischoux-Boucher; Melissa T Carter; Maria Lisa Dentici; Koenraad Devriendt; Melissa Bellini; Maria Cristina Digilio; Asif Doja; David A Dyment; Stense Farholt; Carlos R Ferreira; Lynne A Wolfe; William A Gahl; Maria Gnazzo; Himanshu Goel; Sabine Weller Grønborg; Trine Hammer; Lorenzo Iughetti; Tjitske Kleefstra; David A Koolen; Francesca Romana Lepri; Gabrielle Lemire; Pedro Louro; Gary McCullagh; Simona F Madeo; Annarita Milone; Roberta Milone; Jens Erik Klint Nielsen; Antonio Novelli; Charlotte W. Ockeloen; Rosario Pascarella; Tommaso Pippucci; Ivana Ricca; Stephen P Robertson; Sarah Sawyer; Marie Falkenberg Smeland; Sander Stegmann; Constanze T Stumpel; Amy Goel; Juliet M Taylor; Domenico Barbuti; Annarosa Soresina; Maria Francesca Bedeschi; Roberta Battini; Anna Cavalli; Carlo Fusco; Maria Iascone; Lionel Van Maldergem; Sunita Venkateswaran; Orsetta Zuffardi; Samantha Vergano; Livia Garavelli; Allan Bayat
J Med Genet
Journal of Medical Genetics, 60, 12, pp. 1224-1234
Journal of Medical Genetics, 60, 12, pp. 1224-1234
Academic Journal
Sissy Bassani; Jacqueline Chrast; Giovanna Ambrosini; Norine Voisin; Frédéric Schütz; Alfredo Brusco; Fabio Sirchia; Lydia Turban; Susanna Schubert; Rami Abou Jamra; Jan-Ulrich Schlump; Desiree DeMille; Pinar Bayrak-Toydemir; Gary Rex Nelson; Kristen Nicole Wong; Laura Duncan; Mackenzie Mosera; Christian Gilissen; Lisenka E.L.M. Vissers; Rolph Pfundt; Rogier Kersseboom; Hilde Yttervik; Geir Åsmund Myge Hansen; Marie Falkenberg Smeland; Kameryn M. Butler; Michael J. Lyons; Claudia M.B. Carvalho; Chaofan Zhang; James R. Lupski; Lorraine Potocki; Leticia Flores-Gallegos; Rodrigo Morales-Toquero; Florence Petit; Binnaz Yalcin; Annabelle Tuttle; Houda Zghal Elloumi; Lane Mccormick; Mary Kukolich; Oliver Klaas; Judit Horvath; Marcello Scala; Michele Iacomino; Francesca Operto; Federico Zara; Karin Writzl; Ales Maver; Maria K. Haanpää; Pia Pohjola; Harri Arikka; Christian Iseli; Nicolas Guex; Alexandre Reymond
medRxiv
Academic Journal
Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke ; Vulto-van Silfhout, Anneke T. ; Cappuyns, Elisa ; van der Werf, Ilse M. ; Mancini, Grazia M. ; Tzschach, Andreas ; Bernier, Raphael ; Gozes, Illana ; Eichler, Evan E. ; Romano, Corrado ; Lindstrand, Anna ; Nordgren, Ann ; Kvarnung, Malin ; Kleefstra, Tjitske ; de Vries, Bert B.A. ; Küry, Sébastien ; Rosenfeld, Jill A. ; Meuwissen, Marije E. ; Vandeweyer, Geert ; Kooy, R. Frank
In Biological Psychiatry 15 February 2019 85(4):287-297
Academic Journal
Kröll-Hermi, Ariane ; Stoetzel, Corinne ; Etard, Christelle ; Halabelian, Levon ; Schaefer, Elise ; Scheidecker, Sophie ; Kahrizi, Kimia ; Payman, Jamali ; Geoffroy, Véronique ; Prasad, Megana ; Obringer, Cathy ; Ruch, Laurie ; Girard, Amandine ; Zeng, Hong ; Li, Fengling ; Plassard, Damien ; Keime, Céline ; Mattioli, Francesca ; Feger, Claire ; Piton, Amélie ; Fujita, Atsushi ; Matsumoto, Naomichi ; Castro, Matheus Augusto Araujo ; Ae, Kim Chong ; Ruaud, Lyse ; Levy, Jonathan ; Dozières, Blandine ; Tabet, Anne-Claude ; Wentzensen, Ingrid M. ; Santiago-Sim, Teresa ; Yusupov, Roman ; Tveten, Kristian ; Smeland, Marie Falkenberg ; Alkhunaizi, Ebba ; Cowing, Gina ; Li, Chumei ; Wortmann, Saskia B. ; Feichtinger, René G. ; Mayr, Johannes A. ; Gonorazky, Herman ; Jing, Gan ; Wang, Xiaodong ; Wang, Jia ; Bierhals, Tatjana ; Grinstein, Lev ; Herget, Theresia ; Ruiz, Anna ; Gabau, Elisabeth ; Kampmeier, Antje ; Kassel, Olivier ; Kuechler, Alma ; Platzer, Konrad ; Jamra, Rami Abou ; Woerner, Audrey ; Idleburg, Michaela ; Kircher, Susanne Gerit ; Laccone, Franco ; Golob, Barbara ; Peterlin, Borut ; Čuturilo, Goran ; Tasic, Velibor ; Kolvenbach, Caroline M. ; Hildebrandt, Friedhelm ; Ramos, Luiza L.P. ; Kok, Fernando ; Buck, Cecilia Barbosa ; van de Laar, Ingrid M.B.H. ; de Man, Stella A. ; Taşdelen, Elifcan ; Sezer, Abdullah ; Büke, Afife ; Yavuz, Zehra ; Çomoğlu, Selim Selçuk ; Costin, Carrie ; Tran Mau Them, Frédéric ; Lacaze, Elodie ; Courtin, Thomas ; Héron, Delphine ; Keren, Boris ; Whalen, Sandra ; Roume, Joelle ; Yang, Yanzhong ; Hoffer, Mariëtte J.V. ; van Haeringen, Arie ; Najmabadi, Hossein ; Arrowsmith, Cheryl H. ; Strähle, Uwe ; Dollfus, Hélène ; Muller, Jean
In The American Journal of Human Genetics 4 December 2025 112(12):2943-2960
Academic Journal
Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William; Johnson, Brett V. ; Kumar, Raman ; Oishi, Sabrina ; Alexander, Suzy ; Kasherman, Maria ; Vega, Michelle Sanchez ; Ivancevic, Atma ; Gardner, Alison ; Domingo, Deepti ; Corbett, Mark ; Parnell, Euan ; Yoon, Sehyoun ; Oh, Tracey ; Lines, Matthew ; Lefroy, Henrietta ; Kini, Usha ; Van Allen, Margot ; Grønborg, Sabine ; Mercier, Sandra ; Küry, Sébastien ; Bézieau, Stéphane ; Pasquier, Laurent ; Raynaud, Martine ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Keren, Boris ; Désir, Julie ; Van Maldergem, Lionel ; Marangoni, Martina ; Dikow, Nicola ; Koolen, David A. ; VanHasselt, Peter M. ; Weiss, Marjan ; Zwijnenburg, Petra ; Sa, Joaquim ; Reis, Claudia Falcao ; López-Otín, Carlos ; Santiago-Fernández, Olaya ; Fernández-Jaén, Alberto ; Rauch, Anita ; Steindl, Katharina ; Joset, Pascal ; Goldstein, Amy ; Madan-Khetarpal, Suneeta ; Infante, Elena ; Zackai, Elaine ; Mcdougall, Carey ; Narayanan, Vinodh ; Ramsey, Keri ; Mercimek-Andrews, Saadet ; Pinto e Vairo, Filippo ; Pichurin, Pavel N. ; Ewing, Sarah A. ; Barnett, Sarah S. ; Klee, Eric W. ; Perry, M. Scott ; Koenig, Mary Kay ; Keegan, Catherine E. ; Schuette, Jane L. ; Asher, Stephanie ; Perilla-Young, Yezmin ; Smith, Laurie D. ; Bhoj, Elizabeth ; Kaplan, Paige ; Li, Dong ; Oegema, Renske ; van Binsbergen, Ellen ; van der Zwaag, Bert ; Smeland, Marie Falkenberg ; Cutcutache, Ioana ; Page, Matthew ; Armstrong, Martin ; Lin, Angela E. ; Steeves, Marcie A. ; Hollander, Nicolette den ; Hoffer, Mariëtte J.V. ; Reijnders, Margot R.F. ; Demirdas, Serwet ; Koboldt, Daniel C. ; Bartholomew, Dennis ; Mosher, Theresa Mihalic ; Hickey, Scott E. ; Shieh, Christine ; Sanchez-Lara, Pedro A. ; Graham, John M., Jr. ; Tezcan, Kamer ; Schaefer, G.B. ; Danylchuk, Noelle R. ; Asamoah, Alexander ; Jackson, Kelly E. ; Yachelevich, Naomi ; Au, Margaret ; Pérez-Jurado, Luis A. ; Kleefstra, Tjitske ; Penzes, Peter ; Wood, Stephen A. ; Burne, Thomas ; Pierson, Tyler Mark ; Piper, Michael ; Gécz, Jozef ; Jolly, Lachlan A.
In Biological Psychiatry 15 January 2020 87(2):100-112
Academic Journal
Morad Ansari; Gemma Poke; Quentin Ferry; Kathleen Williamson; Roland Aldridge; Alison M Meynert; Hemant Bengani; Cheng Yee Chan; Hülya Kayserili; Şahin Avci; Raoul C M Hennekam; Anne K Lampe; Egbert Redeker; Tessa Homfray; Alison Ross; Marie Falkenberg Smeland; Sahar Mansour; Michael J Parker; Jacqueline A Cook; Miranda Splitt; Richard B Fisher; Alan Fryer; Alex C Magee; Andrew Wilkie; Angela Barnicoat; Angela F Brady; Nicola S Cooper; Catherine Mercer; Charu Deshpande; Christopher P Bennett; Daniela T Pilz; Deborah Ruddy; Deirdre Cilliers; Diana S Johnson; Dragana Josifova; Elisabeth Rosser; Elizabeth M Thompson; Emma Wakeling; Esther Kinning; Fiona Stewart; Frances Flinter; Katta M Girisha; Helen Cox; Helen V Firth; Helen Kingston; Jamie S Wee; Jane A Hurst; Jill Clayton-Smith; John Tolmie; Julie Vogt; Katrina Tatton–Brown; Kate Chandler; Katrina Prescott; Louise Wilson; Mahdiyeh Behnam; Meriel McEntagart; Rosemarie Davidson; Sally-Ann Lynch; Sanjay Sisodiya; Sarju G Mehta; Shane A McKee; Shehla Mohammed; Simon Holden; Soo-Mi Park; Susan E Holder; Victoria Harrison; Vivienne McConnell; Wayne K Lam; Andrew J Green; Dian Donnai; Maria Bitner-Glindzicz; Deirdre E Donnelly; Christoffer Nellåker; Martin S Taylor; David R FitzPatrick
J Med Genet
Ansari,M , Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A M , Bengani, H, Chan, C Y, Kayserili, H, Avci, Ş, Hennekam, R C M , Lampe, A K, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland , M , Mansour, S, Parker, M J, Cook, J A, Splitt, M , Fisher, R B, Fryer, A, Magee, A C, Wilkie, A, Barnicoat, A, Brady, A F, Cooper, N S, Mercer, C, Deshpande, C, Bennett, C P, Pilz, D T, Ruddy, D, Cilliers, D, Johnson, D S, Josifova, D, Rosser, E, Thompson, E M , Wakeling, E, Kinning, E, Stewart, F, Flinter, F, Girisha, K M , Cox, H, Firth, H V, Kingston, H, Wee, J S, Hurst, J A, Clayton-Smith, J, Tolmie, J, Vogt, J, Tatton-Brown, K, Chandler, K, Prescott, K, Wilson, L, Behnam, M , McEntagart, M , Davidson, R, Lynch, S-A, Sisodiya, S, Mehta, S G, McKee, S A, Mohammed, S, Holden, S, Park, S-M , Holder, S E, Harrison, V, McConnell, V, Lam, W K, Green, A J, Donnai, D, Bitner-Glindzicz, M , Donnelly, D E, Nellåker, C, Taylor, M S & FitzPatrick, D R 2014, ' Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism ', Journal of Medical Genetics, vol. 51, no. 10, pp. 659-668 . https://doi.org/10.1136/jmedgenet-2014-102573
Ansari,
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
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
Academic Journal
Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Parker, Michael J; Cook, Jacqueline A; Splitt, Miranda; Fisher, Richard B; Fryer, Alan; Magee, Alex C; Wilkie, Andrew; Barnicoat, Angela; Brady, Angela F; Cooper, Nicola S; Mercer, Catherine; Deshpande, Charu; Bennett, Christopher P; Pilz, Daniela T; Ruddy, Deborah; Cilliers, Deirdre; Johnson, Diana S; Josifova, Dragana; Rosser, Elisabeth; Thompson, Elizabeth M; Wakeling, Emma; Kinning, Esther; Stewart, Fiona; Flinter, Frances; Girisha, Katta M; Cox, Helen; Firth, Helen V; Kingston, Helen; Wee, Jamie S; Hurst, Jane A; Clayton-Smith, Jill; Tolmie, John; Vogt, Julie; Tatton–Brown, Katrina; Chandler, Kate; Prescott, Katrina; Wilson, Louise; Behnam, Mahdiyeh; McEntagart, Meriel; Davidson, Rosemarie; Lynch, Sally-Ann; Sisodiya, Sanjay; Mehta, Sarju G; McKee, Shane A; Mohammed, Shehla; Holden, Simon; Park, Soo-Mi; Holder, Susan E; Harrison, Victoria; McConnell, Vivienne; Lam, Wayne K; Green, Andrew J; Donnai, Dian; Bitner-Glindzicz, Maria; Donnelly, Deirdre E; Nellåker, Christoffer; Taylor, Martin S; FitzPatrick, David R
Journal of Medical Genetics. Oct 01, 2014 51(10):659-668
Academic Journal
Voigt C; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Mégarbané A; Neveling K; Czeschik JC; Albrecht B; Callewaert B; von Deimling F; Hehr A; Falkenberg Smeland M; König R; Kuechler A; Marcelis C; Puiu M; Reardon W; Riise Stensland HM; Schweiger B; Steehouwer M; Teller C; Martin M; Rahmann S; Hehr U; Brunner HG; Lüdecke HJ; Wieczorek D
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Crippa, M.; Bestetti, I.; Smeland, M. Falkenberg; Naik, S.; Murch, O.; Sironi, A.; Adamo, E.; Gamh, H.; Davies, S.; Evans, R.; McMullan, D.; Milani, D.; Larizza, L.; Low, K.; Finelli, P.
Academic Journal
Lindgren, J.; Stensland, H. Riise; Smeland, M. Falkenberg; Blomqvist, M.; Nilssen, O.; Cayuela, J. Asin
Academic Journal
Bassani, Sissy; Chrast, Jacqueline; Giovanna, Ambrosini; Voisin, Norine; Schutz, Frederic; 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; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Asmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia; Zhang, Chaofan; Lupski, James; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda; Mccormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca Felicia; Zara, Federico; Writzl, Karin; Maver, Ales; Haanpaa, Maria K.; Pohjola, Pia; Arikka, Harri; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
Academic Journal
Christophersen, Ingrid E.; Hald, Oyvind H.; Sejersted, Yngve; Kulseth, Mari Ann; Evju, Oyvind; Marshall, Emily H.; Rypdal, Karoline B.; Smedsrud, Marit K.; Sara, Inga M.; Rosenberger, Andreas D.; Arntzen, Kjell A.; Pahnke, Jens; Tucker, Nathan R.; Lunde, Ida; Smeland, Marie Falkenberg
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[검색어] Falkenberg Smeland, M.
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