학술논문
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Academic Journal
Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander JM; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert BA; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance TRM; Stevens, Servi JC; Vermeulen, Jeroen R; van Harssel, Jeske VT; Bosch, Danielle GM; van Gassen, Koen LI; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata JM; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka ELM; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna
American Journal of Human Genetics. 108(6)
Academic Journal
Bruel, Ange-Line; Vitobello, Antonio; Thiffault, Isabelle; Manwaring, Linda; Willing, Marcia; Agrawal, Pankaj B.; Bayat, Allan; Kitzler, Thomas M.; Brownstein, Catherine A.; Genetti, Casie A.; Gonzalez-Heydrich, Joseph; Jayakar, Parul; Zyskind, Jacob W.; Zhu, Zehua; Vachet, Clemence; Wilson, Gena R.; Pruniski, Brianna; Goyette, Anne-Marie; Duffourd, Yannis; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence
European Journal of Human Genetics. 30(1):111-116
Academic Journal
Szot, Justin O.; Cuny, Hartmut; Martin, Ella M. M. A.; Sheng, Delicia Z.; Iyer, Kavitha; Portelli, Stephanie; Nguyen, Vivien; Gereis, Jessica M.; Alankarage, Dimuthu; Chitayat, David; Chong, Karen; Wentzensen, Ingrid M.; Vincent-Delorme, Catherine; Lermine, Alban; Burkitt-Wright, Emma; Ji, Weizhen; Jeffries, Lauren; Pais, Lynn S.; Tan, Tiong Y.; Pitt, James; Wise, Cheryl A.; Wright, Helen; Andrews, Israel D.; Pruniski, Brianna; Grebe, Theresa A.; Corsten-Janssen, Nicole; Bouman, Katelijne; Poulton, Cathryn; Prakash, Supraja; Keren, Boris; Brown, Natasha J.; Hunter, Matthew F.; Heath, Oliver; Lakhani, Saquib A.; McDermott, John H.; Ascher, David B.; Chapman, Gavin; Bozon, Kayleigh; Dunwoodie, Sally L.
Academic Journal
Goode, Erin; Montoya, Liliana; Graham, Eric; Pruniski, Brianna; Simmons, Curtis; Ngwube, Alexander; Hoffman, Lindsey M.; Tiwari, Nishant; Aldape, Kenneth; Price, Harper N.; Paulson, Vera; Mangum, Ross
JCO Precision Oncology. Mar 01, 2022 6:e2100403-e2100403
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating
Academic Journal
Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B. S.; Lerche, Holger; Lemke, Johannes R.; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E.; Rehm, Heidi L.; McLaughlin, Heather; Bolz, Hanno J.; Zechner, Ulrich; Bryant, Emily; McDonough, Tiffani; Kindler, Stefan; Baehring, Robert
Academic Journal
Bruel, Ange-Line; Vitobello, Antonio; Thiffault, Isabelle; Manwaring, Linda; Willing, Marcia; Agrawal, Pankaj B.; Bayat, Allan; Kitzler, Thomas M.; Brownstein, Catherine A.; Genetti, Casie A.; Gonzalez-Heydrich, Joseph; Jayakar, Parul; Zyskind, Jacob W.; Zhu, Zehua; Vachet, Clemence; Wilson, Gena R.; Pruniski, Brianna; Goyette, Anne-Marie; Duffourd, Yannis; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence
Academic Journal
Academic Journal
Goode, Erin; Montoya, Liliana; Graham, Eric; Pruniski, Brianna; Simmons, Curtis; Ngwube, Alexander; Hoffman, Lindsey M.; Tiwari, Nishant; Aldape, Kenneth; Price, Harper N.; Paulson, Vera; Mangum, Ross
Academic Journal
Bruel, Ange-Line; Vitobello, Antonio; Thiffault, Isabelle; Manwaring, Linda; Willing, Marcia; Agrawal, Pankaj B.; Bayat, Allan; Kitzler, Thomas M.; Browntein, Catherine A.; Genetti, Casie A.; Gonzales-Heydrich, Joseph; Jayakar, Parul; Zyskind, Jacob W.; Zhu, Zehua; Vachet, Clemence; Wilson, Gena R.; Pruniski, Brianna; Goyette, Anne-Marie; Duffourd, Yannis; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence
Academic Journal
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