학술논문
'학술논문'
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1~10
Academic Journal
Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Jamra, Rami Abou; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna CE; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Medicine, Rady Children's Institute for Genomic; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Acosta, Maria T; Adam, Margaret; Adams, David R; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G; Deardorff, Matthew; Dell’Angelica, Esteban C; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L; Douine, Emilie D; Duncan, Laura; Earl, Dawn
Brain. 145(10)
Academic Journal
Duncan, Anna R; Polovitskaya, Maya M; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E; Grant, Patricia E; O’Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M; Agolini, Emanuele; Madden, Jill A; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Jamra, Rami Abou; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F; Seath, Kimberly; Clarke, Lorne; Study, CAUSES; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estévez, Raúl; Jentsch, Thomas J; Pusch, Michael; Agrawal, Pankaj B
American Journal of Human Genetics. 108(8)
Academic Journal
Ruault, Valentin; Burger, Pauline; Gradels‐Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean‐Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange‐Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye‐Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch‐Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne‐Sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M.; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier‐Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin‐Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean‐Louis; Geneviève, David
Molecular Genetics & Genomic Medicine. January 2024, Vol. 12 Issue 1
Academic Journal
Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean-Luc; Arpin, Stephanie; Barcia, Giulia; Bendova, Sarka; Bruel, Ange-Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solene; Daire, Valerie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andree; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Melanie; Frenkiel, Helene; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Benedicte; Germanaud, David; Goujon, Louise; Gouronc, Aurelie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicova, Marketa; Heron, Delphine; Isidor, Bertrand; Marcais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne-Sophie; Lecoquierre, Francois; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M.; Nicolas, Gael; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amelie; Pollazzon, Marzia; Prchalova, Darina; Putoux, Audrey; Rio, Marlene; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier-Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin-Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlckova, Marketa; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinova, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean-Louis; Genevieve, David
Academic Journal
Uggenti, Carolina; Lepelley, Alice; Depp, Marine; Badrock, Andrew P.; Rodero, Mathieu P.; El-Daher, Marie-Thérèse; Rice, Gillian I.; Dhir, Somdutta; Wheeler, Ann P.; Dhir, Ashish; Albawardi, Waad; Frémond, Marie-Louise; Seabra, Luis; Doig, Jennifer; Blair, Natalie; Martin-Niclos, Maria José; Della Mina, Erika; Rubio-Roldán, Alejandro; García-Pérez, Jose L.; Sproul, Duncan; Rehwinkel, Jan; Hertzog, Jonny; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Baruteau, Julien; Brochard, Karine; Buckley, Jonathan; Cavallera, Vanessa; Cereda, Cristina; De Waele, Liesbeth M. H.; Dobbie, Angus; Doummar, Diane; Elmslie, Frances; Koch-Hogrebe, Margarete; Kumar, Ram; Lamb, Kate; Livingston, John H.; Majumdar, Anirban; Lorenço, Charles Marques; Orcesi, Simona; Peudenier, Sylviane; Rostasy, Kevin; Salmon, Caroline A.; Scott, Christiaan; Tonduti, Davide; Touati, Guy; Valente, Marialuisa; van der Linden, Jr., Hélio; Van Esch, Hilde; Vermelle, Marie; Webb, Kate; Jackson, Andrew P.; Reijns, Martin A. M.; Gilbert, Nick; Crow, Yanick J.
Nature Genetics. 52(12):1364-1372
Academic Journal
Johannesen, Katrine M.; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E.; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D.; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A.; Lauxmann, Stephan; Krueger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes R.; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P. Y. Billie; Rho, Jong M.; Ho, Alice W.; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E.; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; Braakman, Hilde M. H.; van der Zwaag, Bert; Harder, Aster V. E.; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Ngoc Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M. Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M.; Muller-Schluter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger; Moller, Rikke S.
Academic Journal
White, Susan M.; Bhoj, Elizabeth; Nellaker, Christoffer; Lachmeijer, Augusta M. A.; Marshall, Aren E.; Boycott, Kym M.; Li, Dong; Smith, Wendy; Hartley, Taila; McBride, Arran; Ernst, Michelle E.; May, Alison S.; Wieczorek, Dagmar; Abou Jamra, Rami; Koch-Hogrebe, Margarete; Ounap, Katrin; Pajusalu, Sander; van Gassen, K. L., I; Sadedin, Simon; Ellingwood, Sara; Tan, Tiong Yang; Christodoulou, John; Barea, Jaime; Lockhart, Paul J.; Nezarati, Marjan M.; Kernohan, Kristin D.; Care4Rare Canada Consortium
Academic Journal
Johannesen, Katrine Marie; Liu, Yuanyuan; Gjerulfsen, Catherine E.; Koko, Mahmoud; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina Duhring; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils; Lauxmann, Stephan; Krueger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell, Judith; Lund, Caroline; Klein, Karl Martin; Au, Py Billie; Rho, Jong; Ho, Alice; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoi-Hansen, Christina; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; van der Zwaag, Bert; Harder, Aster; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastien; Vaccarezza, Maria; Ngoc Minh Le; Christensen, Jakob; Schmidt-Petersen, Mette; Gronborg, Sabine; Scherer, Stephen; Howe, Jennifer; Fazeli, Walid; Howell, Katherine; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caumes, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Koch-Hogrebe, Margarete; Perry, Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann; Mueller-Schlueter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddarth; Tan, Wen-Hann; Olson, Heather; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark; Goldberg, Ethan M.; Roser, Timo; Borggrafe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Lesca, Gaetan; Hedrich, Ulrike; Benda, Jan; Gardella, Elena; Lerche, Holger; Moeller, Rikke Steensbjerre
Academic Journal
Kampmeier, A.; Leitão, E.; Parenti, I.; Beygo, J.; Depienne, C.; Bramswig, N.C.; Kaiser, F.J.; Kuechler, A.; Hsieh, T.-C.; Krawitz, P.; Afenjar, A.; Beck-Wödl, S.; Grasshoff, U.; Haack, T.B.; Bijlsma, E.K.; Ruivenkamp, C.; Lausberg, E.; Elbracht, M.; Haanpää, M.K.; Koillinen, H.; Heinrich, U.; Rost, I.; Jamra, R.A.; Popp, D.; Koch-Hogrebe, M.; Rostasy, K.; López-González, V.; Sanchez-Soler, M.J.; Macedo, C.; Schmetz, A.; Wieczorek, D.; Steinborn, C.; Weidensee, S.; Lesmann, H.; Marbach, F.; Caro, P.; Schaaf, C.P.
In: Frontiers in Cell and Developmental Biology . (Frontiers in Cell and Developmental Biology, 16 January 2023, 10)
Academic Journal
Friedman, J.; Mazumder, A.; Ogasawara, D.; Abou Jamra, R.; Bernard, G.; Bertini, E.; Burglen, L.; Crawford, A.; Cope, H.; Derksen, A.; Dure, L.; Gantz, E.; Koch-Hogrebe, M.; Hurst, A.; Mahida, S.; Marshall, P.; Micalizzi, A.; Novelli, A.; Peng, H.; Rodriguez, D.; Robbins, S.; Rutledge, L.; Scalise, R.; Schliesske, S.; Shashi, V.; Srivastava, S.; Thiffault, I.; Topol, S.; Qebibo, L.; Wieczorek, D.; Cravatt, B.; Haricharan, S.; Torkamani, A.; Bainbridge, M.; Rady-Childrens-Inst-Genomic-Med; Undiagnosed-Dis-Network
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[Author] Koch-Hogrebe M
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