학술논문
'학술논문'
에서 검색결과 31건 | 목록
1~10
Academic Journal
Qebibo, Leila ; Davakan, Amaël ; Nesson-Dauphin, Mathilde ; Boulali, Najlae ; Siquier-Pernet, Karine ; Afenjar, Alexandra ; Amiel, Jeanne ; Bartholdi, Deborah ; Barth, Magalie ; Blondiaux, Eléonore ; Cristian, Ingrid ; Frazier, Zoe ; Goldenberg, Alice ; Good, Jean-Marc ; Salussolia, Catherine Lourdes ; Sahin, Mustafa ; McCullagh, Helen ; McDonald, Kimberly ; McRae, Anne ; Morrison, Jennifer ; Pinner, Jason ; Shinawi, Marwan ; Toutain, Annick ; Vyhnálková, Emílie ; Wheeler, Patricia G. ; Wilnai, Yael ; Hausman-Kedem, Moran ; Coolen, Marion ; Cantagrel, Vincent ; Burglen, Lydie ; Lory, Philippe
In Genetics in Medicine March 2025 27(3)
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
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
Rajkumar-Calkins, Anne S.; Szalat, Raphael; Dreze, Matija; Khan, Iman; Frazier, Zoë; Reznichenkov, Elizaveta; Schnorenberg, Mathew R.; Tsai, Yi-Fang; Nguyen, Huy; Kochupurakkal, Bose; D’Andrea, Alan D; Shapiro, Geoffrey I; Lazaro, Jean-Bernard; Mouw, Kent W
In DNA Repair October 2019 82
Academic Journal
Haviland, Isabel; Hector, Ralph D.; Swanson, Lindsay C.; Verran, Aubrie Soucy; Sherrill, Emma; Frazier, Zoë; Denny, AnneMarie M.; Lucash, Jenna; Zhang, Bo; Dubbs, Holly A.; Marsh, Eric D.; Weisenberg, Judith L.; Leonard, Helen; Crippa, Milena; Cogliati, Francesca; Russo, Silvia; Suter, Bernhard; Rajaraman, Rajsekar; Percy, Alan K.; Schreiber, John M.
American Journal of Medical Genetics. Part A; Jan2025, Vol. 197 Issue 1, p1-13, 13p
Academic Journal
Morison, Lottie D.; Kennis, Milou G. P.; Rots, Dmitrijs; Bouman, Arianne; Kummeling, Joost; Palmer, Elizabeth; Vogel, Adam P.; Liegeois, Frederique; Brignell, Amanda; Srivastava, Siddharth; Frazier, Zoe; Milnes, Di; Goel, Himanshu; Amor, David J.; Scheffer, Ingrid E.; Kleefstra, Tjitske; Morgan, Angela T.
Journal of Medical Genetics; Jun2024, Vol. 61 Issue 6, p578-585, 54p
Academic Journal
Moeller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G.; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedlackova, Lucie; Lassuthova, Petra; Liba, Zuzana; Vlckova, Marketa; William, Nancy; Klee, Eric W.; Gavrilova, Ralitza H.; Levy, Jonathan; Capri, Yline; Scavina, Mena; Koerner, Robert Walter; Valivullah, Zaheer; Weiss, Claudia; Moeller, Greta Marit; Frazier, Zoe; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Kuesters, Benno; Beggs, Alan H.; Sveden, Abigail; Chopra, Maya; Genetti, Casie A.; Nicolai, Joost; Doetsch, Joerg; Koy, Anne; Boennemann, Carsten G.; von der Hagen, Maja; von Kleist-Retzow, Juergen-Christoph; Voermans, Nicol C.; Jungbluth, Heinz; Dafsari, Hormos Salimi
Academic Journal
Santana Almansa, Alexandra; Gable, Dustin L.; Frazier, Zoë; Sveden, Abigail; Quinlan, Aisling; Chopra, Maya; Lewis, Sara A.; Kruer, Michael; Poduri, Annapurna; Srivastava, Siddharth
Academic Journal
Haviland, Isabel; Hector, Ralph D.; Swanson, Lindsay C.; Verran, Aubrie Soucy; Sherrill, Emma; Frazier, Zoe; Denny, AnneMarie M.; Lucash, Jenna; Zhang, Bo; Dubbs, Holly A.; Marsh, Eric D.; Weisenberg, Judith L.; Leonard, Helen; Crippa, Milena; Cogliati, Francesca; Russo, Silvia; Suter, Bernhard; Rajaraman, Rajsekar; Percy, Alan K.; Schreiber, John M.; Demarest, Scott; Benke, Timothy A.; Chopra, Maya; Yu, Timothy W.; Olson, Heather E.
Periodical
Oppermann, Henry; Marcos-Grañeda, Elia; Weiss, Linnea A.; Gurnett, Christina A.; Jelsig, Anne Marie; Vineke, Susanne H.; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T.; Race, Simone; Srivastava, Siddharth; Frazier, Zoë; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M.; Semina, Elena V.; Reuter, Miriam S.; Scherer, Stephen W.; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R.; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B.; Pavlidou, Despoina C.; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R.; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.; Lemke, Johannes R.; Jamra, Rami Abou; Nieto, Marta; Tümer, Zeynep; Platzer, Konrad
European Journal of Human Genetics: EJHG; November 2023, Vol. 31 Issue: 11 p1251-1260, 10p
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