학술논문
'학술논문'
에서 검색결과 416건 | 목록
1~10
Academic Journal
Treadwell, Marsha; Harmatz, Paul R.; Burton, Barbara K.; Mitchell, John J.; Muschol, Nicole; Jones, Simon A.; Pastores, Gregory M.; Lau, Heather A.; Sparkes, Rebecca; Sutton, V. Reid; Meesen, Bianca; Haller, Christine A.; Shaywitz, Adam J.; Gold, Jeffrey I.
Journal of Inborn Errors of Metabolism and Screening. January 2017 5
Academic Journal
Abouhala, Siwaar; Albert, Jessica; Almalvez, Miguel; Alvarez, Raquel; Amin, Mutaz; Anderson, Peter; Aradhya, Swaroop; Ashley, Euan; Assimes, Themistocles; Auriga, Light; Austin-Tse, Christina; Bamshad, Mike; Barseghyan, Hayk; Baxter, Samantha; Behera, Sairam; Beheshti, Shaghayegh; Bejerano, Gill; Berger, Seth; Bernstein, Jon; Best, Sabrina; Blankenmeister, Benjamin; Blue, Elizabeth; Boerwinkle, Eric; Bonkowski, Emily; Bonner, Devon; Boone, Philip; Bornhorst, Miriam; Brand, Harrison; Buckingham, Kati; Calame, Daniel; Carter, Jennefer; Casadei, Silvia; Chadwick, Lisa; Chavez, Clarisa; Chen, Ziwei; Chinn, Ivan; Chong, Jessica; Coban-Akdemir, Zeynep; Cohen, Andrea J.; Conner, Sarah; Conomos, Matthew; Coveler, Karen; Cui, Ya Allen; Currin, Sara; Daber, Robert; Dardas, Zain; Davis, Colleen; Dawood, Moez; de Dios, Ivan; de Esch, Celine; Delaney, Meghan; Delot, Emmanuele; DiTroia, Stephanie; Doddapaneni, Harsha; Du, Haowei; Duan, Ruizhi; Dugan-Perez, Shannon; Duong, Nhat; Duyzend, Michael; Eichler, Evan; Emami, Sara; Fraser, Jamie; Fusaro, Vincent; Galey, Miranda; Ganesh, Vijay; Garcia, Brandon; Garimella, Kiran; Gibbs, Richard; Gifford, Casey; Ginsburg, Amy; Goddard, Page; Gogarten, Stephanie; Gogate, Nikhita; Gordon, William; Gorzynski, John E.; Greenleaf, William; Grochowski, Christopher; Groopman, Emily; Sousa, Rodrigo Guarischi; Gudmundsson, Sanna; Gulati, Ashima; Hall, Stacey; Harvey, William; Hawley, Megan; Heavner, Ben; Horike-Pyne, Martha; Hu, Jianhong; Huang, Yongqing; Hwang, James; Jarvik, Gail; Jensen, Tanner; Jhangiani, Shalini; Jimenez-Morales, David; Jin, Christopher; Saad, Ahmed K.; Kahn-Kirby, Amanda; Kain, Jessica; Kaur, Parneet; Keehan, Laura; Knoblach, Susan; Ko, Arthur; Kundaje, Anshul; Kundu, Soumya; Lancaster, Samuel M.; Larsson, Katie; Lee, Arthur; Lemire, Gabrielle; Lewis, Richard; Li, Wei; Li, Yidan; Liu, Pengfei; LoTempio, Jonathan; Lupski, James (Jim); Ma, Jialan; MacArthur, Daniel; Mahmoud, Medhat; Malani, Nirav; Mangilog, Brian; Marafi, Dana; Marmolejos, Sofia; Marten, Daniel; Martinez, Eva; Marvin, Colby; Marwaha, Shruti; Mastrorosa, Francesco Kumara; Matalon, Dena; May, Susanne; McGee, Sean; Meador, Lauren; Mefford, Heather; Mendez, Hector Rodrigo; Miller, Alexander; Miller, Danny E.; Mitani, Tadahiro; Montgomery, Stephen; Moyses, Mariana; Munderloh, Chloe; Muzny, Donna; Nelson, Sarah; Nguyen, Thuy-mi P.; Nguyen, Jonathan; Nussbaum, Robert; Nykamp, Keith; O'Callaghan, William; O'Heir, Emily; O'Leary, Melanie; Olsen, Jeren; Osei-Owusu, Ikeoluwa; O'Donnell-Luria, Anne; Padhi, Evin; Pais, Lynn; Pan, Miao; Panchal, Piyush; Patterson, Karynne; Payne, Sheryl; Pehlivan, Davut; Petrowski, Paul; Pham, Alicia; Pitsava, Georgia; Podesta, Astaria`Sara; Ponce, Sarah; Porter, Elizabeth; Posey, Jennifer; Prosser, Jaime; Quertermous, Thomas; Rai, Archana; Ramani, Arun; Rehm, Heidi; Reuter, Chloe; Reuter, Jason; Richardson, Matthew; Rivera-Munoz, Andres; Rubio, Oriane; Sabo, Aniko; Salani, Monica; Samocha, Kaitlin; Sanchis-Juan, Alba; Savage, Sarah; Scott, Evette; Scott, Stuart; Sedlazeck, Fritz; Shah, Gulalai; Shojaie, Ali; Singh, Mugdha; Smith, Kevin; Smith, Josh; Snow, Hana; Snyder, Michael; Socarras, Kayla; Starita, Lea; Stark, Brigitte; Stenton, Sarah; Stergachis, Andrew; Stilp, Adrienne; Sutton, V. Reid; Tai, Jui-Cheng; Talkowski, Michael (Mike); Tise, Christina; Tong, Catherine (Cat); Tsao, Philip; Ungar, Rachel; VanNoy, Grace; Vilain, Eric; Voutos, Isabella; Walker, Kim; Wei, Chia-Lin; Weisburd, Ben; Weiss, Jeff; Wellington, Chris; Weng, Ziming; Westheimer, Emily; Wheeler, Marsha; Wheeler, Matthew; Wiel, Laurens; Wilson, Michael; Wojcik, Monica; Wong, Quenna; Xiao, Changrui; Yadav, Rachita; Yi, Qian; Yuan, Bo; Zhao, Jianhua; Zhen, Jimmy; Zhou, Harry; Chong, Jessica X.; Berger, Seth I.; Smith, Erica; Calame, Daniel G.; Hawley, Megan H.; Rivera-Munoz, E. Andres; Bamshad, Michael J.; Rehm, Heidi L.
In Genetics in Medicine October 2024 26(10)
Academic Journal
Guffon, Nathalie; Burton, Barbara K.; Ficicioglu, Can; Magner, Martin; Gil-Campos, Mercedes; Lopez-Rodriguez, Monica A.; Jayakar, Parul; Lund, Allan M.; Tal, Galit; Garcia-Ortiz, Jose Elias; Stepien, Karolina M.; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara S.; Hennermann, Julia B.; Lampe, Christina; McNutt, Markey; Lagler, Florian B.; Scarpa, Maurizio; Sutton, V. Reid; Muschol, Nicole
In Molecular Genetics and Metabolism August 2024 142(4)
Academic Journal
Coban-Akdemir, Zeynep; Song, Xiaofei; Ceballos, Francisco C.; Pehlivan, Davut; Karaca, Ender; Bayram, Yavuz; Mitani, Tadahiro; Gambin, Tomasz; Bozkurt-Yozgatli, Tugce; Jhangiani, Shalini N.; Muzny, Donna M.; Lewis, Richard A.; Liu, Pengfei; Boerwinkle, Eric; Hamosh, Ada; Gibbs, Richard A.; Sutton, V. Reid; Sobreira, Nara; Carvalho, Claudia M.B.; Shaw, Chad A.; Posey, Jennifer E.; Valle, David; Lupski, James R.
In Genetics in Medicine Open 2024 2
Academic Journal
Rahhal, Samar; Farmer, Cristan; Thurm, Audrey; Wassif, Christopher A.; Cawley, Niamh X.; Perreault, John; Dang Do, An; Bianconi, Simona; Hannah-Shmouni, Fady; Guthrie, Whitney; Cubit, Laura S.; Miller, Judith S.; Sutton, V. Reid; Koeberl, Dwight; Porter, Forbes D.
In Molecular Genetics and Metabolism Reports December 2023 37
Academic Journal
Abouhala, Siwaar; Albert, Jessica; Almalvez, Miguel; Alvarez, Raquel; Amin, Mutaz; Anderson, Peter; Aradhya, Swaroop; Ashley, Euan; Assimes, Themistocles; Auriga, Light; Austin-Tse, Christina; Bamshad, Mike; Barseghyan, Hayk; Baxter, Samantha; Behera, Sairam; Beheshti, Shaghayegh; Bejerano, Gill; Berger, Seth; Bernstein, Jon; Best, Sabrina; Blankenmeister, Benjamin; Blue, Elizabeth; Boerwinkle, Eric; Bonkowski, Emily; Bonner, Devon; Boone, Philip; Bornhorst, Miriam; Bozkurt-Yozgatli, Tugce; Brand, Harrison; Buckingham, Kati; Calame, Daniel; Casadei, Silvia; Chadwick, Lisa; Chavez, Clarisa; Chen, Ziwei; Chinn, Ivan; Chong, Jessica; Coban-Akdemir, Zeynep; Cohen, Andrea J.; Conner, Sarah; Conomos, Matthew; Coveler, Karen; Cui, Ya Allen; Currin, Sara; Daber, Robert; Dardas, Zain; Davis, Colleen; Dawood, Moez; de Dios, Ivan; de Esch, Celine; Delaney, Meghan; Délot, Emmanuèle; DiTroia, Stephanie; Doddapaneni, Harsha; Du, Haowei; Duan, Ruizhi; Dugan-Perez, Shannon; Duong, Nhat; Duyzend, Michael; Eichler, Evan; Emami, Sara; Fatih, Jawid; Fraser, Jamie; Fusaro, Vincent; Galey, Miranda; Ganesh, Vijay; Garimella, Kiran; Gibbs, Richard; Gifford, Casey; Ginsburg, Amy; Goddard, Pagé; Gogarten, Stephanie; Gogate, Nikhita; Gordon, William; Gorzynski, John E.; Greenleaf, William; Grochowski, Christopher; Groopman, Emily; Guarischi Sousa, Rodrigo; Gudmundsson, Sanna; Gulati, Ashima; Guo, Daniel; Hale, Walker; Hall, Stacey; Harvey, William; Hawley, Megan; Heavner, Ben; Herman, Isabella; Horike-Pyne, Martha; Hu, Jianhong; Huang, Yongqing; Hwang, James; Jarvik, Gail; Jensen, Tanner; Jhangiani, Shalini; Jimenez-Morales, David; Jin, Christopher; Saad, Ahmed K.; Kahn-Kirby, Amanda; Kain, Jessica; Kaur, Parneet; Keehan, Laura; Knoblach, Susan; Ko, Arthur; Kohler, Jennefer; Kundaje, Anshul; Kundu, Soumya; Lancaster, Samuel M.; Larsson, Katie; Lemire, Gabrielle; Lewis, Richard; Li, Wei; Li, Yidan; Liu, Pengfei; LoTempio, Jonathan; Lupski, James; Ma, Jialan; MacArthur, Daniel; Mahmoud, Medhat; Malani, Nirav; Mangilog, Brian; Marafi, Dana; Marmolejos, Sofia; Marten, Daniel; Martinez, Eva; Marvin, Colby; Marwaha, Shruti; Kumara Mastrorosa, Francesco; Matalon, Dena; May, Susanne; McGee, Sean; Meador, Lauren; Mefford, Heather; Rodrigo Mendez, Hector; Miller, Alexander; Miller, Danny E.; Mitani, Tadahiro; Montgomery, Stephen; Moussa, Hala Mohamed; Moyses, Mariana; Munderloh, Chloe; Muzny, Donna; Nelson, Sarah; Neu, Matthew B.; Nguyen, Jonathan; Nguyen, Thuy-mi P.; Nussbaum, Robert; Nykamp, Keith; O'Callaghan, William; O'Heir, Emily; O'Leary, Melanie; Olsen, Jeren; Osei-Owusu, Ikeoluwa; O'Donnell-Luria, Anne; Padhi, Evin; Pais, Lynn; Pan, Miao; Panchal, Piyush; Patterson, Karynne; Payne, Sheryl; Pehlivan, Davut; Petrowski, Paul; Pham, Alicia; Pitsava, Georgia; Podesta, Astaria; Ponce, Sarah; Posey, Jennifer; Prosser, Jaime; Quertermous, Thomas; Rai, Archana; Ramani, Arun; Rehm, Heidi; Reuter, Chloe; Reuter, Jason; Richardson, Matthew; Rivera-Munoz, Andres; Rubio, Oriane; Sabo, Aniko; Salani, Monica; Samocha, Kaitlin; Sanchis-Juan, Alba; Savage, Sarah; Scott, Stuart; Scott, Evette; Sedlazeck, Fritz; Shah, Gulalai; Shojaie, Ali; Singh, Mugdha; Smith, Josh; Smith, Kevin; Snow, Hana; Snyder, Michael; Socarras, Kayla; Starita, Lea; Stark, Brigitte; Stenton, Sarah; Stergachis, Andrew; Stilp, Adrienne; Sundaram, Laksshman; Sutton, V. Reid; Tai, Jui-Cheng; Talkowski, Michael; Tise, Christina; Tong, Catherine; Tsao, Philip; Ungar, Rachel; VanNoy, Grace; Vilain, Eric; Voutos, Isabella; Walker, Kim; Weisburd, Ben; Weiss, Jeff; Wellington, Chris; Weng, Ziming; Westheimer, Emily; Wheeler, Marsha; Wheeler, Matthew; Wiel, Laurens; Wilson, Michael; Wojcik, Monica; Wong, Quenna; Wong, Issac; Xiao, Changrui; Yadav, Rachita; Yi, Qian; Yuan, Bo; Zhao, Jianhua; Zhen, Jimmy; Zhou, Harry; Wojcik, Monica H.; Reuter, Chloe M.; Duyzend, Michael H.; Boone, Philip M.; Groopman, Emily E.; Délot, Emmanuèle C.; Jain, Deepti; Starita, Lea M.; Montgomery, Stephen B.; Bamshad, Michael J.; Chong, Jessica X.; Wheeler, Matthew T.; Berger, Seth I.; Sedlazeck, Fritz J.
In The American Journal of Human Genetics 3 August 2023 110(8):1229-1248
Academic Journal
Jolly, Angad; Du, Haowei; Borel, Christelle; Chen, Na; Zhao, Sen; Grochowski, Christopher M.; Duan, Ruizhi; Fatih, Jawid M.; Dawood, Moez; Salvi, Sejal; Jhangiani, Shalini N.; Muzny, Donna M.; Koch, André; Rouskas, Konstantinos; Glentis, Stavros; Deligeoroglou, Efthymios; Bacopoulou, Flora; Wise, Carol A.; Dietrich, Jennifer E.; Van den Veyver, Ignatia B.; Dimas, Antigone S.; Brucker, Sara; Sutton, V. Reid; Gibbs, Richard A.; Antonarakis, Stylianos E.; Wu, Nan; Coban-Akdemir, Zeynep H.; Zhu, Lan; Posey, Jennifer E.; Lupski, James R.
In Human Genetics and Genomics Advances 13 July 2023 4(3)
Academic Journal
Lee, Brendan; Sutton, V. Reid; Nagamani, Sandesh C.S.; Glorieux, Francis; Lee, Janice; Esposito, Paul; Wallace, Maegen; Bober, Michael; Eyre, David; Gomez, Danielle; Harris, Gerald; Hart, Tracy; Jain, Mahim; Krakow, Deborah; Krischer, Jeffrey; Orwoll, Eric; Nicol, Lindsey; Raggio, Cathleen; Smith, Peter; Tosi, Laura; Taqi, Doaa; Moussa, Hanan; Schwinghamer, Timothy; Ducret, Maxime; Dagdeviren, Didem; Retrouvey, Jean-Marc; Rauch, Frank; Tamimi, Faleh
In Bone June 2021 147
Academic Journal
Rauch, Damian; Robinson, Marie-Eve; Seiltgens, Cristian; Sutton, V. Reid; Lee, Brendan; Glorieux, Francis; Rauch, Frank
In Bone November 2020 140
Academic Journal
del Caño-Ochoa, Francisco; Ng, Bobby G.; Abedalthagafi, Malak; Almannai, Mohammed; Cohn, Ronald D.; Costain, Gregory; Elpeleg, Orly; Houlden, Henry; Karimiani, Ehsan Ghayoor; Liu, Pengfei; Manzini, M. Chiara; Maroofian, Reza; Muriello, Michael; Al-Otaibi, Ali; Patel, Hema; Shimon, Edvardson; Sutton, V. Reid; Toosi, Mehran Beiraghi; Wolfe, Lynne A.; Rosenfeld, Jill A.; Freeze, Hudson H.; Ramón-Maiques, Santiago
In Genetics in Medicine October 2020 22(10):1598-1605
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