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
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
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
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
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)
Academic Journal
Hengel, Holger; Bosso-Lefèvre, Célia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Élise; Tan, Thong-Teck; Eio, Michelle Y; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M; Gunay-Aygun, Meral; Muriello, Michael J; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michèl AAP; Oegema, Renske; Mitchell, Wendy G; Pierson, Tyler Mark; Andrews, Marisa V; Willing, Marcia C; Rodan, Lance H; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M; Hashem, Mais O; AlSayed, Moeenaldeen D; Abdulrahim, Maha M; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel AH; Faqeih, Eissa A; Asmari, Ali Al; Algain, Sulwan M; Jad, Lamyaa A; Aldhalaan, Hesham M; Helbig, Ingo; Koolen, David A; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E; Klee, Eric W; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schüle, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A; Stewart, James C; Claridge-Chang, Adam; Lefeber, Dirk J; Alkuraya, Fowzan S; Mathuru, Ajay S; Venkatesh, Byrappa; Barycki, Joseph J; Simpson, Melanie A; Jamuar, Saumya S; Schöls, Ludger; Reversade, Bruno
Nature communications. 11(1)
Academic Journal
Schanze, Ina; Bunt, Jens; Lim, Jonathan WC; Schanze, Denny; Dean, Ryan J; Alders, Marielle; Blanchet, Patricia; Attié-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J; Cho, Megan T; Dobyns, William B; Donnai, Dian; Douglas, Jessica; Earl, Dawn L; Edwards, Timothy J; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gérard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; Huth, Samuel F; Izumi, Kosuke; Kerr, Bronwyn; Lacaze, Elodie; Lakeman, Phillis; Mahida, Sonal; Mirzaa, Ghayda M; Morgan, Sian M; Nowak, Catherine; Peeters, Hilde; Petit, Florence; Pilz, Daniela T; Puechberty, Jacques; Reinstein, Eyal; Rivière, Jean-Baptiste; Santani, Avni B; Schneider, Anouck; Sherr, Elliott H; Smith-Hicks, Constance; Wieland, Ilse; Zackai, Elaine; Zhao, Xiaonan; Gronostajski, Richard M; Zenker, Martin; Richards, Linda J
American Journal of Human Genetics. 103(5)
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