학술논문
'학술논문'
에서 검색결과 131건 | 목록
20~30
Periodical
Holtz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Guillen Sacoto, Maria J.; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, André; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O’Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Campo, Miguel del; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb; Raby, Benjamin A.
Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2065-2078, 14p
Academic Journal
Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T; Nesbitt, Addie I; Au, PY Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M; Cao, Kajia; de Brouwer, Arjan PM; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire LS; Verbeek, Nienke E; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Study, Deciphering Developmental Disorders; Kleefstra, Tjitske; Robertson, Stephen P; Santani, Avni; van Gassen, Koen LI; Deardorff, Matthew A
American Journal of Human Genetics. 101(1)
Academic Journal
Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M. Celeste; de la Cruz, Xavier; Padilla, Natalia; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christele; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalle; Andrews, Marisa; Baldridge, Dustin; Constantino, John; Rauch, Anita; van Haeingen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M., Jr.; Au, Margaret; Falvre, Laurence; Shen, Wel; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Mackllin-Mantla, Sarah; Meerschaut, Ilse; Callewaert, Bert; Rels, Andre; Zweler, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pler, Danielle; Wortmann, Saskia; Kamsteeg, Erik-Jann; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denomme-Pichon, Anne-Sophie; Weber, Sacha; de la Fuente, Ruben Perez; del Pozo, Jaime Sanchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Ani; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Then, Frederic Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sebastien; Cueto-Gonzalez, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Kuechler, Alma; Busk, Oyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A. F.
Periodical
Calame, Daniel G.; Bakhtiari, Somayeh; Logan, Rachel; Coban-Akdemir, Zeynep; Du, Haowei; Mitani, Tadahiro; Fatih, Jawid M.; Hunter, Jill V.; Herman, Isabella; Pehlivan, Davut; Jhangiani, Shalini N.; Person, Richard; Schnur, Rhonda E.; Jin, Sheng Chih; Bilguvar, Kaya; Posey, Jennifer E.; Koh, Sookyong; Firouzabadi, Saghar G.; Alehabib, Elham; Tafakhori, Abbas; Esmkhani, Sahra; Gibbs, Richard A.; Noureldeen, Mahmoud M.; Zaki, Maha S.; Marafi, Dana; Darvish, Hossein; Kruer, Michael C.; Lupski, James R.
Genetics in Medicine; December 2021, Vol. 23 Issue: 12 p2455-2460, 6p
Truncating variants in the SHANK1gene are associated with a spectrum of neurodevelopmental disorders
Periodical
May, Halie J.; Jeong, Jaehoon; Revah-Politi, Anya; Cohen, Julie S.; Chassevent, Anna; Baptista, Julia; Baugh, Evan H.; Bier, Louise; Bottani, Armand; Te Carminho A. Rodrigues, Maria resa; Conlon, Charles; Fluss, Joel; Guipponi, Michel; Kim, Chong Ae; Matsumoto, Naomichi; Person, Richard; Primiano, Michelle; Rankin, Julia; Shinawi, Marwan; Smith-Hicks, Constance; Telegrafi, Aida; Toy, Samantha; Uchiyama, Yuri; Aggarwal, Vimla; Goldstein, David B.; Roche, Katherine W.; Anyane-Yeboa, Kwame
Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1912-1921, 10p
Periodical
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G.S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; 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; 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.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L.M.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.
Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1465-1473, 9p
Academic Journal
Gauquelin, Laurence; Cayami, Ferdy K.; Sztriha, László; Yoon, Grace; Tran, Luan T.; Guerrero, Kether; Hocke, François; van Spaendonk, Rosalina M.L.; Fung, Eva L.; DʼArrigo, Stefano; Vasco, Gessica; Thiffault, Isabelle; Niyazov, Dmitriy M.; Person, Richard; Lewis, Kara Stuart; Wassmer, Evangeline; Prescott, Trine; Fallon, Penny; McEntagart, Meriel; Rankin, Julia; Webster, Richard; Philippi, Heike; van de Warrenburg, Bart; Timmann, Dagmar; Dixit, Abhijit; Searle, Claire; Thakur, Nivedita; Kruer, Michael C.; Sharma, Suvasini; Vanderver, Adeline; Tonduti, Davide; van der Knaap, Marjo S.; Bertini, Enrico; Goizet, Cyril; Fribourg, Sébastien; Wolf, Nicole I.; Bernard, Geneviève
Neurology: Genetics. Dec 01, 2019 5(6)
Academic Journal
Diaz, Frank; Khosa, Shaweta; Niyazov, Dmitriy; Lee, Hane; Person, Richard; Morrow, Michelle M.; Signer, Rebecca; Dorrani, Naghmeh; Zheng, Allison; Herzog, Matthew; Freundlich, Robert; Birath, J. Brandon; Cervantes‐Manzo, Yurivia; Martinez‐Agosto, Julian A.; Palmer, Christina; Nelson, Stanley F.; Fogel, Brent L.; Mishra, Shri K.
Academic Journal
Parenti, Ilaria; Leitao, Elsa; Kuechler, Alma; Villard, Laurent; Goizet, Cyril; Courdier, Cecile; Bayat, Allan; Rossi, Alessandra; Julia, Sophie; Bruel, Ange-Line; Mau-Them, Frederic Tran; Nambot, Sophie; Lehalle, Daphne; Willems, Marjolaine; Lespinasse, James; Ghoumid, Jamal; Caumes, Roseline; Smol, Thomas; El Chehadeh, Salima; Schaefer, Elise; Abi-Warde, Marie-Therese; Keren, Boris; Afenjar, Alexandra; Tabet, Anne-Claude; Levy, Jonathan; Maruani, Anna; Aledo-Serrano, Angel; Garming, Waltraud; Milleret-Pignot, Clara; Chassevent, Anna; Koopmans, Marije; Verbeek, Nienke E.; Person, Richard; Belles, Rebecca; Bellus, Gary; Salbert, Bonnie A.; Kaiser, Frank J.; Mazzola, Laure; Convers, Philippe; Perrin, Laurine; Piton, Amelie; Wiegand, Gert; Accogli, Andrea; Brancati, Francesco; Benfenati, Fabio; Chatron, Nicolas; Lewis-Smith, David; Thomas, Rhys H.; Zara, Federico; Striano, Pasquale; Lesca, Gaetan; Depienne, Christel
Academic Journal
Neuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur S; Mojarrad, Majid; Khashab, Heba El; deHoll, Leigh; Yue, Wyatt; Alsaif, Hessa S; Zanetti, Maria N; Bello, Oscar; Person, Richard; Eslahi, Atieh; Khazaei, Zaynab; Feizabadi, Masoumeh H; Efthymiou, Stephanie; Group, SYNaPS Study; El-Bassyouni, Hala T; Soliman, Doaa R
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[AR] Person, Richard
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