학술논문
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위반 시 제재
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'학술논문'
에서 검색결과 179건 | 목록
1~20
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong ; McGaughran, Julie ; Maystadt, Isabelle ; Moortgat, Stephanie ; Graham, John M., Jr. ; van Haeringen, Arie ; Ruivenkamp, Claudia ; Cuperus, Roos ; Vogt, Julie ; Morton, Jenny ; Brasch-Andersen, Charlotte ; Steenhof, Maria ; Hansen, Lars Kjærsgaard ; Adler, Élodie ; Lyonnet, Stanislas ; Pingault, Veronique ; Sandrine, Marlin ; Ziegler, Alban ; Donald, Tyhiesia ; Nelson, Beverly ; Holt, Brandon ; Petryna, Oleksandra ; Firth, Helen ; McWalter, Kirsty ; Zyskind, Jacob ; Telegrafi, Aida ; Juusola, Jane ; Person, Richard ; Bamshad, Michael J. ; Earl, Dawn ; Tsai, Anne Chun-Hui ; Yearwood, Katherine R. ; Marco, Elysa ; Nowak, Catherine ; Douglas, Jessica ; Hakonarson, Hakon ; Bhoj, Elizabeth J.
In Human Genetics and Genomics Advances 14 July 2022 3(3)
Academic Journal
Rots, Dmitrijs ; Chater-Diehl, Eric ; Dingemans, Alexander J.M. ; Goodman, Sarah J. ; Siu, Michelle T. ; Cytrynbaum, Cheryl ; Choufani, Sanaa ; Hoang, Ny ; Walker, Susan ; Awamleh, Zain ; Charkow, Joshua ; Meyn, Stephen ; Pfundt, Rolph ; Rinne, Tuula ; Gardeitchik, Thatjana ; de Vries, Bert B.A. ; Deden, A. Chantal ; Leenders, Erika ; Kwint, Michael ; Stumpel, Constance T.R.M. ; Stevens, Servi J.C. ; Vermeulen, Jeroen R. ; van Harssel, Jeske V.T. ; Bosch, Danielle G.M. ; van Gassen, Koen L.I. ; van Binsbergen, Ellen ; de Geus, Christa M. ; Brackel, Hein ; Hempel, Maja ; Lessel, Davor ; Denecke, Jonas ; Slavotinek, Anne ; Strober, Jonathan ; Crunk, Amy ; Folk, Leandra ; Wentzensen, Ingrid M. ; Yang, Hui ; Zou, Fanggeng ; Millan, Francisca ; Person, Richard ; Xie, Yili ; Liu, Shuxi ; Ousager, Lilian B. ; Larsen, Martin ; Schultz-Rogers, Laura ; Morava, Eva ; Klee, Eric W. ; Berry, Ian R. ; Campbell, Jennifer ; Lindstrom, Kristin ; Pruniski, Brianna ; Neumeyer, Ann M. ; Radley, Jessica A. ; Phornphutkul, Chanika ; Schmidt, Berkley ; Wilson, William G. ; Õunap, Katrin ; Reinson, Karit ; Pajusalu, Sander ; van Haeringen, Arie ; Ruivenkamp, Claudia ; Cuperus, Roos ; Santos-Simarro, Fernando ; Palomares-Bralo, María ; Pacio-Míguez, Marta ; Ritter, Alyssa ; Bhoj, Elizabeth ; Tønne, Elin ; Tveten, Kristian ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Rowe, Leah ; Bunn, Jason ; Saenz, Margarita ; Platzer, Konrad ; Mertens, Mareike ; Caluseriu, Oana ; Nowaczyk, Małgorzata J.M. ; Cohn, Ronald D. ; Kannu, Peter ; Alkhunaizi, Ebba ; Chitayat, David ; Scherer, Stephen W. ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Koolen, David A. ; Weksberg, Rosanna
In The American Journal of Human Genetics 3 June 2021 108(6):1053-1068
Academic Journal
Ambrose, J.C.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; Furió-Tarí, P.; Hackett, J.M.; Halai, D.; Holman, J.E.; Hubbard, T.J.P.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Ryten, M.; Savage, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Thomas, E.R.A.; Thompson, S.R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Tolchin, Dara ; Yeager, Jessica P. ; Prasad, Priya ; Dorrani, Naghmeh ; Russi, Alvaro Serrano ; Martinez-Agosto, Julian A. ; Haseeb, Abdul ; Angelozzi, Marco ; Santen, G.W.E. ; Ruivenkamp, Claudia ; Mercimek-Andrews, Saadet ; Depienne, Christel ; Kuechler, Alma ; Mikat, Barbara ; Ludecke, Hermann-Josef ; Bilan, Frederic ; Le Guyader, Gwenael ; Gilbert-Dussardier, Brigitte ; Keren, Boris ; Heide, Solveig ; Haye, Damien ; Van Esch, Hilde ; Keldermans, Liesbeth ; Ortiz, Damara ; Lancaster, Emily ; Krantz, Ian D. ; Krock, Bryan L. ; Pechter, Kieran B. ; Arkader, Alexandre ; Medne, Livija ; DeChene, Elizabeth T. ; Calpena, Eduardo ; Melistaccio, Giada ; Wilkie, Andrew O.M. ; Suri, Mohnish ; Foulds, Nicola ; Begtrup, Amber ; Henderson, Lindsay B. ; Forster, Cara ; Reed, Patrick ; McDonald, Marie T. ; McConkie-Rosell, Allyn ; Thevenon, Julien ; Le Tanno, Pauline ; Coutton, Charles ; Tsai, Anne C.H. ; Stewart, Sarah ; Maver, Ales ; Gorazd, Rudolf ; Pichon, Olivier ; Nizon, Mathilde ; Cogné, Benjamin ; Isidor, Bertrand ; Martin-Coignard, Dominique ; Stoeva, Radka ; Lefebvre, Véronique ; Le Caignec, Cédric
In The American Journal of Human Genetics 4 June 2020 106(6):830-845
Academic Journal
Yan, Kezhi ; Rousseau, Justine ; Littlejohn, Rebecca Okashah ; Kiss, Courtney ; Lehman, Anna ; Rosenfeld, Jill A. ; Stumpel, Constance T.R. ; Stegmann, Alexander P.A. ; Robak, Laurie ; Scaglia, Fernando ; Nguyen, Thi Tuyet Mai ; Fu, He ; Ajeawung, Norbert F. ; Camurri, Maria Vittoria ; Li, Lin ; Gardham, Alice ; Panis, Bianca ; Almannai, Mohammed ; Sacoto, Maria J. Guillen ; Baskin, Berivan ; Ruivenkamp, Claudia ; Xia, Fan ; Bi, Weimin ; Cho, Megan T. ; Potjer, Thomas P. ; Santen, Gijs W.E. ; Parker, Michael J. ; Canham, Natalie ; McKinnon, Margaret ; Potocki, Lorraine ; MacKenzie, Jennifer J. ; Roeder, Elizabeth R. ; Campeau, Philippe M. ; Yang, Xiang-Jiao
In The American Journal of Human Genetics 5 January 2017 100(1):91-104
Academic Journal
Joshi, Ricky S. ; Garg, Paras ; Zaitlen, Noah ; Lappalainen, Tuuli ; Watson, Corey T. ; Azam, Nidha ; Ho, Daniel ; Li, Xin ; Antonarakis, Stylianos E. ; Brunner, Han G. ; Buiting, Karin ; Cheung, Sau Wai ; Coffee, Bradford ; Eggermann, Thomas ; Francis, David ; Geraedts, Joep P. ; Gimelli, Giorgio ; Jacobson, Samuel G. ; Le Caignec, Cedric ; de Leeuw, Nicole ; Liehr, Thomas ; Mackay, Deborah J. ; Montgomery, Stephen B. ; Pagnamenta, Alistair T. ; Papenhausen, Peter ; Robinson, David O. ; Ruivenkamp, Claudia ; Schwartz, Charles ; Steiner, Bernhard ; Stevenson, David A. ; Surti, Urvashi ; Wassink, Thomas ; Sharp, Andrew J.
In The American Journal of Human Genetics 1 September 2016 99(3):555-566
Academic Journal
Black, Jennifer; Lebel, Robert Roger; Garg, Ria; de Koning, Maayke; Ruivenkamp, Claudia; Goel, Himanshu; Smith, Scott C.
American Journal of Medical Genetics. Part A; Jul2025, Vol. 197 Issue 7, p1-11, 11p
Academic Journal
Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M.S.; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P.A.; Sinnema, Margje; Duynisveld, Irma; Salvarinova, Ramona; Race, Simone; de Vries, Bert B.A.; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J. Austin; Putnam, Abbey M.; Person, Richard; Jamra, Rami Abou; Oppermann, Henry
In The American Journal of Human Genetics 4 December 2025 112(12):3046-3047
Academic Journal
Sobering, Andrew K. ; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjærsgaard; Adler, Élodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Chun-Hui Tsai, Anne; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J.
In Human Genetics and Genomics Advances 12 January 2023 4(1)
Academic Journal
van der Laan, Liselot; Rooney, Kathleen; Alders, Mariëlle; Relator, Raissa; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A.; Lauffer, Peter; Aerden, Mio; Theunis, Miel; Legius, Eric; Tedder, Matthew L.; Vissers, Lisenka E. L. M.; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette J. V.; Wieczorek, Dagmar; Bramswig, Nuria C.; Herget, Theresia; González, Vanesa López
Academic Journal
Rahimi, Meer Jacob ; Urban, Nicole ; Wegler, Meret ; Sticht, Heinrich ; Schaefer, Michael ; Popp, Bernt ; Gaunitz, Frank ; Morleo, Manuela ; Nigro, Vincenzo ; Maitz, Silvia ; Mancini, Grazia M.S. ; Ruivenkamp, Claudia ; Suk, Eun-Kyung ; Bartolomaeus, Tobias ; Merkenschlager, Andreas ; Koboldt, Daniel ; Bartholomew, Dennis ; Stegmann, Alexander P.A. ; Sinnema, Margje ; Duynisveld, Irma ; Salvarinova, Ramona ; Race, Simone ; de Vries, Bert B.A. ; Trimouille, Aurélien ; Naudion, Sophie ; Marom, Daphna ; Hamiel, Uri ; Henig, Noa ; Demurger, Florence ; Rahner, Nils ; Bartels, Enrika ; Hamm, J. Austin ; Putnam, Abbey M. ; Person, Richard ; Abou Jamra, Rami ; Oppermann, Henry
In The American Journal of Human Genetics 5 May 2022 109(5):944-952
Academic Journal
Hochstenbach, Ron ; van Binsbergen, Ellen ; Engelen, John ; Nieuwint, Aggie ; Polstra, Abeltje ; Poddighe, Pino ; Ruivenkamp, Claudia ; Sikkema-Raddatz, Birgit ; Smeets, Dominique ; Poot, Martin
In European Journal of Medical Genetics 2009 52(4):161-169
Academic Journal
Vissers, Lisenka E.L.M. ; Kalvakuri, Sreehari ; de Boer, Elke ; Geuer, Sinje ; Oud, Machteld ; van Outersterp, Inge ; Kwint, Michael ; Witmond, Melde ; Kersten, Simone ; Polla, Daniel L. ; Weijers, Dilys ; Begtrup, Amber ; McWalter, Kirsty ; Ruiz, Anna ; Gabau, Elisabeth ; Morton, Jenny E.V. ; Griffith, Christopher ; Weiss, Karin ; Gamble, Candace ; Bartley, James ; Vernon, Hilary J. ; Brunet, Kendra ; Ruivenkamp, Claudia ; Kant, Sarina G. ; Kruszka, Paul ; Larson, Austin ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Nugent, Kimberly ; Raymond, F. Lucy ; Venselaar, Hanka ; Demurger, Florence ; Soler-Alfonso, Claudia ; Li, Dong ; Bhoj, Elizabeth ; Hayes, Ian ; Hamilton, Nina Powell ; Ahmad, Ayesha ; Fisher, Rachel ; van den Born, Myrthe ; Willems, Marjolaine ; Sorlin, Arthur ; Delanne, Julian ; Moutton, Sebastien ; Christophe, Philippe ; Mau-Them, Frederic Tran ; Vitobello, Antonio ; Goel, Himanshu ; Massingham, Lauren ; Phornphutkul, Chanika ; Schwab, Jennifer ; Keren, Boris ; Charles, Perrine ; Vreeburg, Maaike ; De Simone, Lenika ; Hoganson, George ; Iascone, Maria ; Milani, Donatella ; Evenepoel, Lucie ; Revencu, Nicole ; Ward, D. Isum ; Burns, Kaitlyn ; Krantz, Ian ; Raible, Sarah E. ; Murrell, Jill R. ; Wood, Kathleen ; Cho, Megan T. ; van Bokhoven, Hans ; Muenke, Maximilian ; Kleefstra, Tjitske ; Bodmer, Rolf ; de Brouwer, Arjan P.M.
In The American Journal of Human Genetics 2 July 2020 107(1):164-172
Academic Journal
Rots, Dmitrijs; Rooney, Kathleen; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Pfundt, Rolph; Marcelis, Carlo; Willemsen, Marjolein H.; van Hagen, Johanna M.; Zwijnenburg, Petra; Alders, Marielle; Õunap, Katrin; Reimand, Tiia; Fjodorova, Olga; Berland, Siren; Liahjell, Eva Benedicte; Bojovic, Ognjen; Kriek, Marjolein; Ruivenkamp, Claudia; Bonati, Maria Teresa
Academic Journal
Cheng, Hanyin ; Dharmadhikari, Avinash V. ; Varland, Sylvia ; Ma, Ning ; Domingo, Deepti ; Kleyner, Robert ; Rope, Alan F. ; Yoon, Margaret ; Stray-Pedersen, Asbjørg ; Posey, Jennifer E. ; Crews, Sarah R. ; Eldomery, Mohammad K. ; Akdemir, Zeynep Coban ; Lewis, Andrea M. ; Sutton, Vernon R. ; Rosenfeld, Jill A. ; Conboy, Erin ; Agre, Katherine ; Xia, Fan ; Walkiewicz, Magdalena ; Longoni, Mauro ; High, Frances A. ; van Slegtenhorst, Marjon A. ; Mancini, Grazia M.S. ; Finnila, Candice R. ; van Haeringen, Arie ; den Hollander, Nicolette ; Ruivenkamp, Claudia ; Naidu, Sakkubai ; Mahida, Sonal ; Palmer, Elizabeth E. ; Murray, Lucinda ; Lim, Derek ; Jayakar, Parul ; Parker, Michael J. ; Giusto, Stefania ; Stracuzzi, Emanuela ; Romano, Corrado ; Beighley, Jennifer S. ; Bernier, Raphael A. ; Küry, Sébastien ; Nizon, Mathilde ; Corbett, Mark A. ; Shaw, Marie ; Gardner, Alison ; Barnett, Christopher ; Armstrong, Ruth ; Kassahn, Karin S. ; Van Dijck, Anke ; Vandeweyer, Geert ; Kleefstra, Tjitske ; Schieving, Jolanda ; Jongmans, Marjolijn J. ; de Vries, Bert B.A. ; Pfundt, Rolph ; Kerr, Bronwyn ; Rojas, Samantha K. ; Boycott, Kym M. ; Person, Richard ; Willaert, Rebecca ; Eichler, Evan E. ; Kooy, R. Frank ; Yang, Yaping ; Wu, Joseph C. ; Lupski, James R. ; Arnesen, Thomas ; Cooper, Gregory M. ; Chung, Wendy K. ; Gecz, Jozef ; Stessman, Holly A.F. ; Meng, Linyan ; Lyon, Gholson J.
In The American Journal of Human Genetics 3 May 2018 102(5):985-994
Academic Journal
Meester, Josephina A.N. ; Southgate, Laura ; Stittrich, Anna-Barbara ; Venselaar, Hanka ; Beekmans, Sander J.A. ; den Hollander, Nicolette ; Bijlsma, Emilia K. ; Helderman-van den Enden, Appolonia ; Verheij, Joke B.G.M. ; Glusman, Gustavo ; Roach, Jared C. ; Lehman, Anna ; Patel, Millan S. ; de Vries, Bert B.A. ; Ruivenkamp, Claudia ; Itin, Peter ; Prescott, Katrina ; Clarke, Sheila ; Trembath, Richard ; Zenker, Martin ; Sukalo, Maja ; Van Laer, Lut ; Loeys, Bart ; Wuyts, Wim
In The American Journal of Human Genetics 3 September 2015 97(3):475-482
Academic Journal
Mio Aerden; Anne-Sophie Denommé-Pichon; Dominique Bonneau; Ange-Line Bruel; Julian Delanne; Bénédicte Gérard; Benoît Mazel; Christophe Philippe; Lucile Pinson; Clément Prouteau; Audrey Putoux; Frédéric Tran Mau-Them; Éléonore Viora-Dupont; Antonio Vitobello; Alban Ziegler; Amélie Piton; Bertrand Isidor; Christine Francannet; Pierre-Yves Maillard; Sophie Julia; Anais Philippe; Elise Schaefer; Saskia Koene; Claudia Ruivenkamp; Mariette Hoffer; Eric Legius; Miel Theunis; Boris Keren; Julien Buratti; Perrine Charles; Thomas Courtin; Mala Misra-Isrie; Mieke van Haelst; Quinten Waisfisz; Dagmar Wieczorek; Ariane Schmetz; Theresia Herget; Fanny Kortüm; Jasmin Lisfeld; François-Guillaume Debray; Nuria C. Bramswig; Isis Atallah; Heidi Fodstad; Guillaume Jouret; Berta Almoguera; Saoud Tahsin-Swafiri; Fernando Santos-Simarro; Maria Palomares-Bralo; Vanesa López-González; Maria Kibaek; Pernille M. Tørring; Alessandra Renieri; Lucia Pia Bruno; Katrin Õunap; Monica Wojcik; Tzung-Chien Hsieh; Peter Krawitz; Hilde Van Esch
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Academic Journal
Richardson, Ruth; Baralle, Diana; Bennett, Christopher; Briggs, Tracy; Bijlsma, Emilia K.; Clayton‐Smith, Jill; Constantinou, Panayiotis; Foulds, Nicola; Jarvis, Joanna; Jewell, Rosalyn; Johnson, Diana S.; McEntagart, Meriel; Parker, Michael J.; Radley, Jessica A.; Robertson, Lisa; Ruivenkamp, Claudia; Rutten, Julie W.; Tellez, James; Turnpenny, Peter D.; Wilson, Valerie
American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p867-877, 11p
Academic Journal
Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; Haeringen, Arie van; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; McLaughlin, Heather; Bolz, Hanno J; Zechner, Ulrich; Bryant, Emily
Human Molecular Genetics; 12/15/2021, Vol. 30 Issue 24, p2300-2314, 15p
Academic Journal
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American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2037-2045, 9p
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[AR] Ruivenkamp, Claudia
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