학술논문
'학술논문'
에서 검색결과 48건 | 목록
1~10
Academic Journal
Slavotinek, Anne; van Hagen, Johanna M.; Kalsner, Louisa; Pai, Shashidhar; Davis-Keppen, Laura; Ohden, Lisa; Weber, Yvonne G.; Macke, Erica L.; Klee, Eric W.; Morava, Eva; Gunderson, Lauren; Person, Richard; Liu, Shuxi; Weiss, Marjan
In European Journal of Medical Genetics April 2020 63(4)
Academic Journal
Kennedy, Craig H.; Huedo-Medina, Tania B.; Twachtman-Bassett, Jennifer; Kalsner, Louisa; Areny-Joval, Remei; Eigsti, Inge-Marie
Advances in Neurodevelopmental Disorders: Multidisciplinary Research and Practice Across the Lifespan. :1-7
Academic Journal
Graf, William D.; Cohen, Bruce H.; Kalsner, Louisa; Pearl, Phillip L.; Sarnat, Harvey B.; Epstein, Leon G.
Academic Journal
Marbach, Felix; Lipska‐Ziętkiewicz, Beata S.; Knurowska, Agata; Michaud, Vincent; Margot, Henri; Lespinasse, James; Tran Mau Them, Frédéric; Coubes, Christine; Park, Joohyun; Grosch, Sarah; Roggia, Cristiana; Grasshoff, Ute; Kalsner, Louisa; Denommé‐Pichon, Anne‐Sophie; Afenjar, Alexandra; Héron, Bénédicte; Keren, Boris; Caro, Pilar; Schaaf, Christian P.
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2627-2636, 10p
Academic Journal
Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A.; Hernandez-Garcia, Andres; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G.; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A.; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J.; Monteleone, Berrin; Saunders, Carol J.; Jean Cuevas, July K.; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L.; Monteiro, Fabiola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E.; Macke, Erica L.; Morava, Eva; Klee, Eric W.; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J.; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D.; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M.R.; Carter, Melissa T.; Kalsner, Louisa; de Vries, Bert B.A.; van Bon, Bregje W.; Wevers, Marijke R.; Pfundt, Rolph; Stegmann, Alexander P.A.; Kerr, Bronwyn; Kingston, Helen M.; Chandler, Kate E.; Sheehan, Willow; Elias, Abdallah F.; Shinde, Deepali N.; Towne, Meghan C.; Robin, Nathaniel H.; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R. Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E.M.; Brooks, Alice S.; Gribnau, Joost; Boers, Ruben G.; Finestra, Teresa Robert; Carter, Lauren B.; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M.; Barakat, Tahsin Stefan; Graham, John M., Jr.; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E.; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E.L.M.; Sadikovic, Bekim; Scott, Daryl A.; Holder, Jimmy Lloyd, Jr.; Tartaglia, Marco
American Journal of Human Genetics. March 4, 2021, Vol. 108 Issue 3, 502
Academic Journal
Woerden, Geeske M.; Bos, Melanie; Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; Geus, Gwynna; Kalsner, Louisa; Sorlin, Arthur; Bruel, Ange‐Line; Koolen, David A.
Human Mutation; Apr2021, Vol. 42 Issue 4, p445-459, 15p
Academic Journal
Rots, Dmitrijs; Yamada, Ayumi; Foroutan, Aidin; McCon-Key, Haley; Kerkhof, Jennifer; Alders, Marielle; Maystadt, Isabelle; Holden, Simon; Balasubramanian, Meena; Merla, Giuseppe; San-Ten, Gijs; Belonis, Alyce; Bouman, Arianne; Kummeling, Joost; Heijligers, Malou; Van Haelst, Mieke; Parker, Michael; Park, Soo-Mi; Metcalfe, Kay; Genevieve, David; Chatron, Nicolas; Putoux, Audrey; Pasquier, Laurent; Dubourg, Christele; Strobl-Wildemann, Gertrud; Plomp, Astrid; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Van Hagen, Annet; Bijlsma, Emilia K.; Firth, Helen; Forzano, Francesca; Kalsner, Louisa; Hol, Janna A.; Courage, Carolina; Vanhoutte, Els; Banka, Siddharth; Venselaar, Hanka; Kasri, N. Nadif; van Bokhoven, Hans; Brunner, Han; Vissers, Lisenka; Shinkai, Yoichi; Sadikovic, Bekim; Kleefstra, Tjitske
Academic Journal
Zahra, Qandeel; Çakmak, Çağla; Koprulu, Mine; Shuaib, Muhammad; Sobreira, Nara; Kalsner, Louisa; Sobreira, Joselito; Guillen Sacoto, Maria J.; Malik, Sajid; Tolun, Aslıhan
Journal of Human Genetics. 65(12):1115-1123
Academic Journal
Hiatt, Susan M.; Thompson, Michelle L.; Prokop, Jeremy W.; Lawlor, James M.J.; Gray, David E.; Bebin, E. Martina; Rinne, Tuula; Kempers, Marlies; Pfundt, Rolph; van Bon, Bregje W.; Mignot, Cyril; Nava, Caroline; Depienne, Christel; Kalsner, Louisa; Rauch, Anita; Joset, Pascal; Bachmann-Gagescu, Ruxandra; Wentzensen, Ingrid M.; McWalter, Kirsty; Cooper, Gregory M.
Academic Journal
van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Baranano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Roisin; de Geus, Gwynna; Kalsner, Louisa; Sorlin, Arthur; Bruel, Ange-Line; Koolen, David A.; Gabriel, Melissa K.; Rossi, Mari; Fitzpatrick, David R.; Wilkie, Andrew O. M.; Calpena, Eduardo; Johnson, David; Brooks, Alice; van Slegtenhorst, Marjon; Fleischer, Julie; Groepper, Daniel; Lindstrom, Kristin; Innes, A. Micheil; Goodwin, Allison; Humberson, Jennifer; Noyes, Amanda; Langley, Katherine G.; Telegrafi, Aida; Blevins, Amy; Hoffman, Jessica; Guillen Sacoto, Maria J.; Juusola, Jane; Monaghan, Kristin G.; Punj, Sumit; Simon, Marleen; Pfundt, Rolph; Elgersma, Ype; Kleefstra, Tjitske
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[AR] Kalsner, Louisa
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