학술논문
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'학술논문'
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Academic Journal
한국사회복지학. 2025-05 77(2):69-94
Academic Journal
Korean Journal of Social Welfare. 77:69-94
Academic Journal
Duy, Cihangir; Hurtz, Christian; Shojaee, Seyedmehdi; Cerchietti, Leandro; Geng, Huimin; Swaminathan, Srividya; Klemm, Lars; Kweon, Soo-mi; Nahar, Rahul; Braig, Melanie; Park, Eugene; Kim, Yong-mi; Hofmann, Wolf-Karsten; Herzog, Sebastian; Jumaa, Hassan; Koeffler, H. Phillip; Yu, J. Jessica; Heisterkamp, Nora; Graeber, Thomas G.; Wu, Hong; Ye, B. Hilda; Melnick, Ari; Müschen, Markus
Nature: International weekly journal of science. :1-1
Academic Journal
Swaminathan, Srividya; Klemm, Lars; Park, Eugene; Papaemmanuil, Elli; Ford, Anthony; Kweon, Soo-Mi; Trageser, Daniel; Hasselfeld, Brian; Henke, Nadine; Mooster, Jana; Geng, Huimin; Schwarz, Klaus; Kogan, Scott C.; Casellas, Rafael; Schatz, David G.; Lieber, Michael R.; Greaves, Mel F.; Müschen, Markus
Nature Immunology. 27(2):376-376
Academic Journal
Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo‐Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik‐Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C.; Farrar, Michelle A.; Vuillerot, Carole
Ann Neurol
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
Academic Journal
Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Smith, A, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park , S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, O'Connor, M, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K B, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Muir, A M, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American journal of human genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K,Park , S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American Journal of Human Genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K,
Academic Journal
Perceptual and Motor Skills. 131:1398-1414
Academic Journal
한국발육발달학회지. 2023-02 31(1):97-110
Academic Journal
Jin, Hua; Meng, Ruoyu; Li, Cong Shan; Kim, Seong-Hun; Chai, Ok Hee; Lee, Young-Hoon; Park, Byung-Hyun; Lee, Ju-Seog; Kim, Soo Mi
Cancer Gene Therapy. 31(11):1669-1687
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
Eunju Jang; Soo Mi Son; Ki-yoon Moon; Seunghoon Lee; Hong Seok Han; Sun Cheol Park; Jang Yong Kim; Sang Seob Yun
The Journal of Vascular Access. 26:72-80
Academic Journal
한국무용학회지, 10/31/2021, Vol. 21, Issue 3, p. 15-29
Academic Journal
Case Rep Genet
Case Reports in Genetics, Vol 2024 (2024)
Case Reports in Genetics, Vol 2024 (2024)
Academic Journal
Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; Dingemans, Alexander J.M. ; Joss, Shelagh ; Foulds, Nicola ; Jones, Elizabeth A. ; Stewart, Sarah ; Vasudevan, Pradeep ; Dabir, Tabib ; Park, Soo-Mi ; Jewell, Rosalyn ; Brown, Natasha ; Pais, Lynn ; Jacquemont, Sébastien ; Jizi, Khadijé ; Ravenswaaij-Arts, Conny M.A. van ; Kroes, Hester Y. ; Stumpel, Constance T.R. M. ; Ockeloen, Charlotte W. ; Diets, Illja J. ; Nizon, Mathilde ; Vincent, Marie ; Cogné, Benjamin ; Besnard, Thomas ; Kambouris, Marios ; Anderson, Emily ; Zackai, Elaine H. ; McDougall, Carey ; Donoghue, Sarah ; O'Donnell-Luria, Anne ; Valivullah, Zaheer ; O'Leary, Melanie ; Srivastava, Siddharth ; Byers, Heather ; Leslie, Nancy ; Mazzola, Sarah ; Tiller, George E. ; Vera, Moin ; Shen, Joseph J. ; Boles, Richard ; Jain, Vani ; Brischoux-Boucher, Elise ; Kinning, Esther ; Simpson, Brittany N. ; Giltay, Jacques C. ; Harris, Jacqueline ; Keren, Boris ; Guimier, Anne ; Marijon, Pierre ; Vries, Bert B.A. de ; Motter, Constance S. ; Mendelsohn, Bryce A. ; Coffino, Samantha ; Gerkes, Erica H. ; Afenjar, Alexandra ; Visconti, Paola ; Bacchelli, Elena ; Maestrini, Elena ; Delahaye-Duriez, Andree ; Gooch, Catherine ; Hendriks, Yvonne ; Adams, Hieab ; Thauvin-Robinet, Christel ; Josephi-Taylor, Sarah ; Bertoli, Marta ; Parker, Michael J. ; Rutten, Julie W. ; Caluseriu, Oana ; Vernon, Hilary J. ; Kaziyev, Jonah ; Zhu, Jia ; Kremen, Jessica ; Frazier, Zoe ; Osika, Hailey ; Breault, David ; Nair, Sreelata ; Lewis, Suzanne M.E. ; Ceroni, Fabiola ; Viggiano, Marta ; Posar, Annio ; Brittain, Helen ; Giovanna, Traficante ; Giulia, Gori ; Quteineh, Lina ; Ha-Vinh Leuchter, Russia ; Zonneveld-Huijssoon, Evelien ; Mellado, Cecilia ; Marey, Isabelle ; Coudert, Alicia ; Aracena Alvarez, Mariana Inés ; Kennis, Milou G.P. ; Bouman, Arianne ; Roifman, Maian ; Amorós Rodríguez, María Inmaculada ; Ortigoza-Escobar, Juan Dario ; Vernimmen, Vivian ; Sinnema, Margje ; Pfundt, Rolph ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Weksberg, Rosanna ; Banka, Siddharth
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
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
In Journal of Environmental Management 2008 87(1):1-13
Academic Journal
Mary R. Sy; Jaynee Chauhan; Katrina Prescott; Aliza Imam; Alison Kraus; Ana Beleza; Lee Salkeld; Saraswati Hosdurga; Michael Parker; Pradeep Vasudevan; Lily Islam; Himanshu Goel; Nicole Bain; Soo‐Mi Park; Shehla Mohammed; Klaus Dieterich; Charles Coutton; Véronique Satre; Gaëlle Vieville; Alan Donaldson; Claire Beneteau; Jamal Ghoumid; Kris Van Den Bogaert; Anneleen Boogaerts; Elise Boudry; Clémence Vanlerberghe; Florence Petit; Laura Bernardini; Barbara Torres; Teresa Mattina; Diana Carli; Giorgia Mandrile; Michele Pinelli; Nicola Brunetti‐Pierri; Katherine Neas; Rachel Beddow; Pernille M. Tørring; Flavio Faletra; Beatrice Spedicati; Paolo Gasparini; Alessandro Mussa; Giovanni Battista Ferrero; Anne Lampe; Wayne Lam; Weimin Bi; Carlos A. Bacino; Akela Kuwahara; Jeffrey O. Bush; Xiaonan Zhao; Pamela N. Luna; Chad A. Shaw; Jill A. Rosenfeld; Daryl A. Scott
American Journal of Medical Genetics Part A, vol 188, iss 12
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