학술논문
'학술논문'
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1~10
Academic Journal
Qiao, Lu; Xu, Le; Yu, Lan; Wynn, Julia; Hernan, Rebecca; Zhou, Xueya; Farkouh-Karoleski, Christiana; Krishnan, Usha S; Khlevner, Julie; De, Aliva; Zygmunt, Annette; Crombleholme, Timothy; Lim, Foong-Yen; Needelman, Howard; Cusick, Robert A; Mychaliska, George B; Warner, Brad W; Wagner, Amy J; Danko, Melissa E; Chung, Dai; Potoka, Douglas; Kosiński, Przemyslaw; McCulley, David J; Elfiky, Mahmoud; Azarow, Kenneth; Fialkowski, Elizabeth; Schindel, David; Soffer, Samuel Z; Lyon, Jane B; Zalieckas, Jill M; Vardarajan, Badri N; Aspelund, Gudrun; Duron, Vincent P; High, Frances A; Sun, Xin; Donahoe, Patricia K; Shen, Yufeng; Chung, Wendy K
American Journal of Human Genetics. 108(10)
Academic Journal
Sacoto, Maria J Guillen; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Network, Undiagnosed Diseases; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane
American Journal of Human Genetics. 107(2)
Academic Journal
Kelly, McKenna; Park, Meredith; Mihalek, Ivana; Rochtus, Anne; Gramm, Marie; Pérez‐Palma, Eduardo; Axeen, Erika Takle; Hung, Christina Y; Olson, Heather; Swanson, Lindsay; Anselm, Irina; Briere, Lauren C; High, Frances A; Sweetser, David A; Network, Undiagnosed Diseases; Kayani, Saima; Snyder, Molly; Calvert, Sophie; Scheffer, Ingrid E; Yang, Edward; Waugh, Jeff L; Lal, Dennis; Bodamer, Olaf; Poduri, Annapurna
Epilepsia. 60(3)
Academic Journal
Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser, David A; Bellen, Hugo J
Human Molecular Genetics; 5/1/2020, Vol. 29 Issue 9, p1568-1579, 12p
Periodical
Jangam, Sharayu V; Briere, Lauren C; Jay, Kristy L; Andrews, Jonathan C; Walker, Melissa A; Rodan, Lance H; High, Frances A; Yamamoto, Shinya; Sweetser, David A; Wangler, Michael F
Genetics; August 2023, Vol. 224 Issue: 4
Electronic Resource
Meng, Linyan; https://orcid.org/0000-0001-7474-9178; Isohanni, Pirjo; https://orcid.org/0000-0002-0156-1614; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; https://orcid.org/0000-0002-4349-9951; Steindl, Katharina; https://orcid.org/0000-0002-4425-3072; Rauch, Anita; https://orcid.org/0000-0003-2930-3163; Hackenberg, Annette; High, Frances A; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; https://orcid.org/0000-0002-1119-6809; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; https://orcid.org/0000-0003-2233-3423; et al
Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A ; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; et al (2021). MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Annals of Neurology, 89(4):828-833.
Electronic Resource
Guillen Sacoto, Maria J; Guillen Sacoto, Maria J; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Undiagnosed Diseases Network; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane
American journal of human genetics; vol 107, iss 2, 352-363; 0002-9297
Academic Journal
Manderfield LJ; High FA; Engleka KA; Liu F; Li L; Rentschler S; Epstein JA; Manderfield, Lauren J; High, Frances A; Engleka, Kurt A; Liu, Feiyan; Li, Li; Rentschler, Stacey; Epstein, Jonathan A
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[AR] High, Frances A
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