학술논문
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Academic Journal
한국발육발달학회지. 2023-02 31(1):97-110
Academic Journal
Sy, Mary; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos; Kuwahara, Akela; Zhao, Xiaonan; Luna, Pamela; Shaw, Chad; Rosenfeld, Jill; Scott, Daryl; Bush, Jeffrey
American Journal of Medical Genetics Part A. 188(12)
Academic Journal
Michelle Peter; Rhiannon Mellis; Hannah McInnes-Dean; Morgan Daniel; Holly Walton; Jane Fisher; Kerry Leeson-Beevers; Stephanie Allen; Emma L. Baple; Ana Beleza-Meireles; Marta Bertoli; Jennifer Campbell; Natalie Canham; Deirdre Cilliers; Jan Cobben; Jacqueline Eason; Victoria Harrison; Muriel Holder-Espinasse; Alison Male; Sahar Mansour; Alec McEwan; Soo-Mi Park; Audrey Smith; Alison Stewart; Dagmar Tapon; Pradeep Vasudevan; Denise Williams; Wing Han Wu; Lyn S. Chitty; Melissa Hill
Frontiers in Genetics, Vol 15 (2024)
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
In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625
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
한국무용학회지, 10/31/2021, Vol. 21, Issue 3, p. 15-29
Academic Journal
Case Reports in Genetics, Vol 2024 (2024)
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