학술논문
'학술논문'
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1~10
Academic Journal
Ha, Thoa; Morgan, Angela; Bartos, Meghan N.; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B.; Gaspar, Harald; Kopps, Anna M.; Rieubland, Claudine; Hurst, Anna C. E.; Amor, David J.; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L.; Vincent, Marie
American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-10, 10p
Academic Journal
Bowling, Kevin M.; Thompson, Michelle L.; Kelly, Melissa A.; Scollon, Sarah; Slavotinek, Anne M.; Powell, Bradford C.; Kirmse, Brian M.; Hendon, Laura G.; Brothers, Kyle B.; Korf, Bruce R.; Cooper, Gregory M.; Greally, John M.; Hurst, Anna C. E.
Academic Journal
Verberne, Eline A.; van der Laan, Liselot; Haghshenas, Sadegheh; Rooney, Kathleen; Levy, Michael A.; Alders, Mariëlle; Maas, Saskia M.; Jansen, Sandra; Lieden, Agne; Anderlid, Britt-Marie; Rafael-Croes, Louise; Campeau, Philippe M.; Chaudhry, Ayeshah; Koolen, David A.; Pfundt, Rolph; Hurst, Anna C. E.; Tran-Mau-Them, Frederic; Bruel, Ange-Line; Lambert, Laetitia; Isidor, Bertrand
Academic Journal
Herbst, Charlotte; Bothe, Viktoria; Wegler, Meret; Axer-Schaefer, Susanne; Audebert-Bellanger, Séverine; Gecz, Jozef; Cogne, Benjamin; Feldman, Hagit Baris; Horn, Anselm H. C.; Hurst, Anna C. E.; Kelly, Melissa A.; Kruer, Michael C.; Kurolap, Alina; Laquerriere, Annie; Li, Megan; Mark, Paul R.; Morawski, Markus; Nizon, Mathilde; Pastinen, Tomi; Polster, Tilman
Academic Journal
American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p131-140, 10p
Academic Journal
Academic Journal
Herbst, Charlotte; Bothe, Viktoria; Wegler, Meret; Axer-Schaefer, Susanne; Audebert-Bellanger, Severine; Gecz, Jozef; Cogne, Benjamin; Feldman, Hagit Baris; Horn, Anselm H. C.; Hurst, Anna C. E.; Kelly, Melissa A.; Kruer, Michael C.; Kurolap, Alina; Laquerriere, Annie; Li, Megan; Mark, Paul R.; Morawski, Markus; Nizon, Mathilde; Pastinen, Tomi; Polster, Tilman; Saugier-Veber, Pascale; SeSong, Jang; Sticht, Heinrich; Stieler, Jens T.; Thifffault, Isabelle; van Eyk, Clare L.; Marcorelles, Pascale; Vezain-Mouchard, Myriam; Abou Jamra, Rami; Oppermann, Henry
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Academic Journal
Ha, Thoa; Morgan, Angela; Bartos, Meghan N.; Beatty, Katelyn; Cogne, Benjamin; Braun, Dominique; Gerber, Celine B.; Gaspar, Harald; Kopps, Anna M.; Rieubland, Claudine; Hurst, Anna C. E.; Amor, David J.; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, Andre; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L.; Vincent, Marie; de Vries, Bert B. A.; Walsh, Matthew B.; Wechsler, Stephanie Burns; Zweier, Christiane; Schnur, Rhonda E.; Guillen Sacoto, Maria J.; Margot, Henri; Masotto, Barbara; Palafoll, Maria Irene Valenzuela; Nawaz, Urwah; Voineagu, Irina; Slavotinek, Anne
Academic Journal
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernandez, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernandez-Jaen, Alberto; Fernandez-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gomez-Andres, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpaeae, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Moller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodriguez-Palmero, Agusti; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tuemer, Zeynep; Rubboli, Guido
Academic Journal
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
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[AR] Hurst, Anna C. E.
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