학술논문
'학술논문'
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1~10
Academic Journal
Gropman, A.; Smith-Hicks, C.L.; Neul, J.; Agosto, J.A. Martinez; German, K.; Izumi, K.; Abbeduto, L.; Dawalt, L.; Wangler, M.; Wasserstein, M.; Storch, Eric A.; Cohen, J.S.; Samaco, R.; Molholm, S.; Shankar, S.; Srivastava, S.; Walkley, S.; Sveden, A.; Dies, K.; Gupta, Aditi; Oh, Inez; Hauck, Rachel; Chopra, Maya; Savatt, Juliann M.; Bingaman, Taylor I.; Good, Molly E.; Morgan, Alexis; Cooney, Caitlin; Rossel, Allison M.; VanHoute, Bryanna; Cordova, Ineke; Mahida, Sonal; Lanzotti, Virginia; Baldridge, Dustin; Gurnett, Christina A.; Piven, Joseph; Hazlett, Heather; Pomeroy, Scott L.; Sahin, Mustafa; Payne, Philip R.O.; Riggs, Erin Rooney; Constantino, John N.
In Genetics in Medicine March 2024 26(3)
Academic Journal
Chopra, Maya; Savatt, Juliann; Bingaman, Taylor; Good, Molly; Morgan, Alexis; Cooney, Caitlin; Rossel, Allison; VanHoute, Bryanna; Cordova, Ineke; Mahida, Sonal; Lanzotti, Virginia; Baldridge, Dustin; Gurnett, Christina; Piven, Joseph; Hazlett, Heather; Pomeroy, Scott; Sahin, Mustafa; Payne, Philip; Riggs, Erin; Constantino, John
Genetics in Medicine. 26(3)
Academic Journal
Delanne, Julian; Lecat, Magaly; Blackburn, Patrick R.; Klee, Eric W.; Stumpel, Constance T.R.M.; Stegmann, Sander; Stevens, Servi J.C.; Nava, Caroline; Heron, Delphine; Keren, Boris; Mahida, Sonal; Naidu, Sakkubai; Babovic-Vuksanovic, Dusica; Herkert, Johanna C.; Torring, Pernille M.; Kibæk, Maria; De Bie, Isabelle; Pfundt, Rolph; Hendriks, Yvonne M.C.; Ousager, Lilian Bomme; Bend, Renee; Warren, Hannah; Skinner, Steven A.; Lyons, Michael J.; Pöe, Charlotte; Chevarin, Martin; Jouan, Thibaud; Garde, Aurore; Thomas, Quentin; Kuentz, Paul; Tisserant, Emilie; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Thauvin-Robinet, Christel
In European Journal of Medical Genetics January 2023 66(1)
Academic Journal
Tremblay-Laganière, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L.; McLaughlin, Heather M.; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S.; Baranano, Kristin; Ismail, Fatima Y.; Patel, Millan S.; Lehman, Anna; Edmondson, Andrew C.; Nagy, Amanda; Walker, Melissa A.; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E.; Mancini, Grazia M.S.; Barakat, Tahsin Stefan; Steinfeld, Robert; Rüsch, Christina T.; Stettner, Georg M.; Wagner, Matias; Wortmann, Saskia B.; Kini, Usha; Brady, Angela F.; Stals, Karen L.; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D.; Antonarakis, Stylianos E.; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.; Murakami, Yoshiko
In Genetics in Medicine October 2021 23(10):1873-1881
Academic Journal
Cordova, Ineke; Blesson, Alyssa; Savatt, Juliann M.; Sveden, Abigail; Mahida, Sonal; Hazlett, Heather; Rooney Riggs, Erin; Chopra, Maya
Academic Journal
Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Jamra, Rami Abou; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna CE; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Medicine, Rady Children's Institute for Genomic; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Acosta, Maria T; Adam, Margaret; Adams, David R; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G; Deardorff, Matthew; Dell’Angelica, Esteban C; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L; Douine, Emilie D; Duncan, Laura; Earl, Dawn
Brain. 145(10)
Academic Journal
Baldridge, Dustin; Kaster, Levi; Sancimino, Catherine; Srivastava, Siddharth; Molholm, Sophie; Gupta, Aditi; Oh, Inez; Lanzotti, Virginia; Grewal, Daleep; Riggs, Erin Rooney; Savatt, Juliann M.; Hauck, Rachel; Sveden, Abigail; Wasserstein, Melissa; Sahin, Mustafa; Wangler, Michael F.; Schultz, Robert; Gropman, Andrea; Smith-Hicks, Constance; Abbeduto, Len; German, Kendell; DaWalt, Leann Smith; Neul, Jeffrey L.; Walkley, Steven U.; Storch, Eric A.; Samaco, Rodney; Izumi, Kosuke; Pandey, Juhi; Berger, Seth I.; Cohen, Julie S.; Shankar, Suma; Doherty, Dan; Mahida, Sonal; Dies, Kira A.; Clarke, Megan; Taylor, Alexa; Berl, Madison; German, Ryan; Nguyen, Christina; Harris, Holly K.; Hut, Amanda; Gomez, Vanessa; Arneson, Carrie L.; Horn, Isaac; Lavezzi, Gabriel Damon; Grypp, Diane; McNeil, Devinae; White, Cailin; Rusyniak, Julie; Higareda, Abigail Moradel; Deppen, Paul; Bican, Anna; Rockouski, Madeline; Schneider, Emily; Thompson, Madeline; Kinard, Jessica; Minor, Brittany
Journal of Neurodevelopmental Disorders. April 17, 2024, Vol. 16 Issue 1
Academic Journal
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Academic Journal
Deshwar, Ashish R; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P; Noche, Ramil; Walker, Suzi; Scherer, Stephen W; Mahida, Sonal; Elitt, Christopher M; Nicolas, Gaël; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana
Academic Journal
Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana PG; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, MJ; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren DM; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny EV; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham, John M; Kini, Usha; Mackay, Joel P; Pierson, Tyler Mark
Genetics in Medicine. 22(5)
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