학술논문
'학술논문'
에서 검색결과 126건 | 목록
1~10
Academic Journal
Poletto, Edina; Marathe, Manasvi; Margittai, Dana; Liu, Xikun; Jiang, Qiaoshi; Deshpande, Trupti; Fazeli, Fariba; Ikeda, Tsutomu; Van Horn, Timothy; Gomez-Ospina, Natalia
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
Pimentel Vera, Luisa N.; Gastou, Marc; Arozqueta-Basurto, Jessica; Colella, Pasqualina; Feng, Allan; Poletto, Edina; Gomez-Ospina, Natalia
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
Dever, Daniel P.; Scharenberg, Samantha G.; Camarena, Joab; Kildebeck, Eric J.; Clark, Joseph T.; Martin, Renata M.; Bak, Rasmus O.; Tang, Yuming; Dohse, Monika; Birgmeier, Johannes A.; Jagadeesh, Karthik A.; Bejerano, Gill; Tsukamoto, Ann; Gomez-Ospina, Natalia; Uchida, Nobuko; Porteus, Matthew H.
In iScience 31 May 2019 15:524-535
Academic Journal
Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H; Dean, S Joy; Gooch, Catherine; Murray, Brianna K; Swartz, Erin; Vergano, Samantha A Schrier; Towne, Meghan C; Nugent, Kimberly; Roeder, Elizabeth R; Kresge, Christina; Pletcher, Beth A; Grand, Katheryn; Graham, John M; Gates, Ryan; Gomez‐Ospina, Natalia; Ramanathan, Subhadra; Clark, Robin Dawn; Glaser, Kimberly; Benke, Paul J; Cohen, Julie S; Fatemi, Ali; Mu, Weiyi; Baranano, Kristin W; Madden, Jill A; Gubbels, Cynthia S; Yu, Timothy W; Agrawal, Pankaj B; Chambers, Mary‐Kathryn; Phornphutkul, Chanika; Pugh, John A; Tauber, Kate A; Azova, Svetlana; Smith, Jessica R; O’Donnell‐Luria, Anne; Medsker, Hannah; Srivastava, Siddharth; Krakow, Deborah; Schweitzer, Daniela N; Arboleda, Valerie A
Molecular Genetics & Genomic Medicine. 9(10)
Periodical
Selvaraj, Sridhar; Feist, William N.; Viel, Sebastien; Vaidyanathan, Sriram; Dudek, Amanda M.; Gastou, Marc; Rockwood, Sarah J.; Ekman, Freja K.; Oseghale, Aluya R.; Xu, Liwen; Pavel-Dinu, Mara; Luna, Sofia E.; Cromer, M. Kyle; Sayana, Ruhi; Gomez-Ospina, Natalia; Porteus, Matthew H.
Nature Biotechnology; 20240101, Issue: Preprints p1-14, 14p
Academic Journal
Selvaraj, Sridhar; Feist, William N.; Viel, Sebastien; Vaidyanathan, Sriram; Dudek, Amanda M.; Gastou, Marc; Rockwood, Sarah J.; Ekman, Freja K.; Oseghale, Aluya R.; Xu, Liwen; Pavel-Dinu, Mara; Luna, Sofia E.; Cromer, M. Kyle; Sayana, Ruhi; Gomez-Ospina, Natalia; Porteus, Matthew H.
Academic Journal
Academic Journal
Shimada, Shino; Ng, Bobby G.; White, Amy L.; Nickander, Kim K.; Turgeon, Coleman; Liedtke, Kristen L.; Lam, Christina T.; Font-Montgomery, Esperanza; Lourenco, Charles M.; He, Miao; Peck, Dawn S.; Umana, Luis A.; Uhles, Crescenda L.; Haynes, Devon; Wheeler, Patricia G.; Bamshad, Michael J.; Nickerson, Deborah A.; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia
Journal of Medical Genetics; Nov2022, Vol. 59 Issue 11, p1104-1115, 12p
Academic Journal
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Academic Journal
Gomez-Ospina, Natalia; Potter, Carol J; Xiao, Rui; Manickam, Kandamurugu; Kim, Mi-Sun; Kim, Kang Ho; Shneider, Benjamin L; Picarsic, Jennifer L; Jacobson, Theodora A; Zhang, Jing; He, Weimin; Liu, Pengfei; Knisely, AS; Finegold, Milton J; Muzny, Donna M; Boerwinkle, Eric; Lupski, James R; Plon, Sharon E; Gibbs, Richard A; Eng, Christine M; Yang, Yaping; Washington, Gabriel C; Porteus, Matthew H; Berquist, William E; Kambham, Neeraja; Singh, Ravinder J; Xia, Fan; Enns, Gregory M; Moore, David D
Nature communications. 7(1)
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[AR] Gomez-Ospina, Natalia
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