학술논문
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'학술논문'
에서 검색결과 168건 | 목록
1~20
Academic Journal
Reid, Whitney, MD; Baas, Laura, BS; Stiegler, Amy L., PhD; Boggon, Titus J., PhD; Kreiger, Portia A., MD; Sullivan, Kathleen E., MD, PhD; Behrens, Edward M., MD; Kandula, Vinay V.R., MD; van den Heuvel, Lambert P., PhD; Brigatti, Karlla W., MS; Carson, Vincent J., MD; Romberg, Neil, MD
The Journal of Allergy and Clinical Immunology. 156(3):835-841
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy
Academic Journal
Bontrager, Jordan Elliott; White, Amy L.; Brigatti, Karlla W.; Laxen, William; Loken, Perry R.; Grider, Tiffany; Oglesbee, Devin; Gavrilov, Dimitar K.; Tortorelli, Silvia; Hall, Patricia L.; Matern, Dietrich; Lauer, Emily; Pickart, Angela; Salsbery, Kyle; Niu, Zhiyv; Smith, Christy; Albright, Amy; Mukherjee-Clavin, Bipasha; Parmar, Pooja; Mhoon, Justin; Massie, Rami; Pilon-Cadieux, Camille; Gauthier, Amelie; Alawneh, Josef; Emilie Nguyen, Cam-Tu; Shy, Michael E.; Koehler, Alanna E.; Carson, Vincent J.; Herrmann, David N.; Schultz, Matthew J.
Neurology. Nov 12, 2025 105(11)
Academic Journal
Grace E. Curry; Nicole L. Bertsch; Tran Quach; Rhonda Anderson; Neel Matiwala; Karlla W. Brigatti; Steven J. Wilhelm; Katie B. Williams; Mark E. Lowe; Zineb Ammous; Xunjun K. Xiao
Journal of Lipid Research, Vol 66, Iss 9, Pp 100878- (2025)
Academic Journal
Rodrigues, Ashlin ; Sweigert, Erin ; Robinson, Donna ; Kregel, Makenna ; Williamson, Joelle ; Koehler, Alanna ; Schreckengast, Sean ; Forry, Cara ; Loeven, KaLynn ; Puffenberger, Erik ; McVey, Alexis ; Hendrickson, Christine ; Patel, Andrea ; Thomas, Anne ; Thomas, Sarah ; Brigatti, Karlla W. ; Strauss, Kevin ; Meier, Grace Loudon
In Molecular Genetics and Metabolism March 2026 147(3)
Academic Journal
Annals of Clinical and Translational Neurology. July, 2024, Vol. 11 Issue 7, p1868, 11 p.
Academic Journal
Kevin A. Strauss; Vincent J. Carson; Emilienne Bolettieri; Mariah Everett; Ashton Bollinger; Lauren E. Bowser; Keturah Beiler; Millie Young; Simon Edvardson; Nitay Fraenkel; Adele D'Amico; Enrico Bertini; Lokesh Lingappa; Devyani Chowdhury; Linda P. Lowes; Megan Iammarino; Lindsay N. Alfano; Karlla W. Brigatti
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 1972-1984 (2023)
Academic Journal
Mitchell, Braxton D.; Onyenobi, Ebuka; Lewis, Joshua P.; Gaynor, Brady; Perry, James A.; Maloney, Kristin; O'Connell, Jeffrey R.; Tiner, Jessica; Beitelshees, Amber L.; Van Hout, Cristopher V.; McArdle, Patrick F.; Xu, Huichun; Puffenberger, Erik G.; Brigatti, Karlla W.; Daue, Melanie; Whitlatch, Hilary B.; Alkelai, Anna; Schäffer, Alejandro A.; Overton, John; Streeten, Elizabeth A.
American Journal of Medical Genetics. Part A; Dec2025, Vol. 197 Issue 12, p1-13, 13p
Academic Journal
Ferguson, Cole J. ; Urso, Olivia ; Bodrug, Tatyana ; Gassaway, Brandon M. ; Watson, Edmond R. ; Prabu, Jesuraj R. ; Lara-Gonzalez, Pablo ; Martinez-Chacin, Raquel C. ; Wu, Dennis Y. ; Brigatti, Karlla W. ; Puffenberger, Erik G. ; Taylor, Cora M. ; Haas-Givler, Barbara ; Jinks, Robert N. ; Strauss, Kevin A. ; Desai, Arshad ; Gabel, Harrison W. ; Gygi, Steven P. ; Schulman, Brenda A. ; Brown, Nicholas G. ; Bonni, Azad
In Molecular Cell 6 January 2022 82(1):90-105
Academic Journal
Usmani, Muhammad A; Ahmed, Zubair M; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A; Lee, Hane; Colao, Emma; Motazacker, M Mahdi; Brigatti, Karlla W; Puffenberger, Erik G; Riazuddin, S Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K; Wagner, Matias; Schultz, Matthew J; Seri, Marco; Kievit, Anneke J A; Perrotti, Nicola; Wassink-Ruiter, J S Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima
American Journal of Human Genetics, 108, 7, pp. 1330-1341
Am. J. Hum. Genet. 108, 1330-1341 (2021)
Am. J. Hum. Genet. 108, 1330-1341 (2021)
Academic Journal
Laura J. Grange; John J. Reynolds; Farid Ullah; Bertrand Isidor; Robert F. Shearer; Xenia Latypova; Ryan M. Baxley; Antony W. Oliver; Anil Ganesh; Sophie L. Cooke; Satpal S. Jhujh; Gavin S. McNee; Robert Hollingworth; Martin R. Higgs; Toyoaki Natsume; Tahir Khan; Gabriel Á. Martos-Moreno; Sharon Chupp; Christopher G. Mathew; David Parry; Michael A. Simpson; Nahid Nahavandi; Zafer Yüksel; Mojgan Drasdo; Anja Kron; Petra Vogt; Annemarie Jonasson; Saad Ahmed Seth; Claudia Gonzaga-Jauregui; Karlla W. Brigatti; Alexander P. A. Stegmann; Masato Kanemaki; Dragana Josifova; Yuri Uchiyama; Yukiko Oh; Akira Morimoto; Hitoshi Osaka; Zineb Ammous; Jesús Argente; Naomichi Matsumoto; Constance T.R.M. Stumpel; Alexander M. R. Taylor; Andrew P. Jackson; Anja-Katrin Bielinsky; Niels Mailand; Cedric Le Caignec; Erica E. Davis; Grant S. Stewart
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
Academic Journal
Hershkovitz, Tova ; Kurolap, Alina ; Tal, Galit ; Paperna, Tamar ; Mory, Adi ; Staples, Jeffrey ; Brigatti, Karlla W. ; Gonzaga-Jauregui, Claudia ; Dumin, Elena ; Saada, Ann ; Mandel, Hanna ; Baris Feldman, Hagit
In Molecular Genetics and Metabolism Reports March 2021 26
Academic Journal
Katie B. Williams; Michael Horst; Millie Young; Christine Pascua; Erik G. Puffenberger; Karlla W. Brigatti; Claudia Gonzaga-Jauregui; Alan R. Shuldiner; Samuel Gidding; Kevin A. Strauss; Devyani Chowdhury
BMC Cardiovascular Disorders, Vol 22, Iss 1, Pp 1-10 (2022)
Academic Journal
Castagnoli, Riccardo; Pala, Francesca; Subramanian, Poorani; Oguz, Cihan; Schwarz, Benjamin; Lim, Ai Ing; Burns, Andrew S.; Fontana, Elena; Bosticardo, Marita; Corsino, Cristina; Angelova, Angelina; Delmonte, Ottavia M.; Kenney, Heather; Riley, Deanna; Smith, Grace; de Bruin, Lisa Ott; Oikonomou, Vasileios; Dias, Lucas Dos Santos; Fink, Danielle; Bohrnsen, Eric; Kimzey, Cole D.; Marseglia, Gian Luigi; Alva-Lozada, Guisela; Bergerson, Jenna R. E.; Brett, Ana; Brigatti, Karlla W.; Dimitrova, Dimana; Dutmer, Cullen M.; Freeman, Alexandra F.; Ale, Hanadys; Holland, Steven M.; Licciardi, Francesco; Pasic, Srdjan; Poskitt, Laura E.; Potts, David E.; Dasso, Joseph F.; Sharapova, Svetlana O.; Strauss, Kevin A.; Ward, Brant R.; Yilmaz, Melis; Kuhns, Douglas B.; Lionakis, Michail S.; Daley, Stephen R.; Kong, Heidi H.; Segre, Julia A.; Villa, Anna; Pittaluga, Stefania; Walter, Jolan E.; Vujkovic-Cvijin, Ivan; Belkaid, Yasmine; Notarangelo, Luigi D.
Academic Journal
Mendoza-Ferreira, Natalia; Karakaya, Mert; Cengiz, Nur; Beijer, Danique; Brigatti, Karlla W.; Gonzaga-Jauregui, Claudia; Fuhrmann, Nico; Hölker, Irmgard; Thelen, Maximilian P.; Zetzsche, Sebastian; Rombo, Roman; Puffenberger, Erik G.; De Jonghe, Peter; Deconinck, Tine; Zuchner, Stephan; Strauss, Kevin A.; Carson, Vincent; Schrank, Bertold; Wunderlich, Gilbert; Baets, Jonathan; Wirth, Brunhilde
Am J Hum Genet
The American journal of human genetics
The American Journal of Human Genetics
The American journal of human genetics
The American Journal of Human Genetics
Academic Journal
Job O. de Jong; Ceyda Llapashtica; Matthieu Genestine; Kevin Strauss; Frank Provenzano; Yan Sun; Huixiang Zhu; Giuseppe P. Cortese; Francesco Brundu; Karlla W. Brigatti; Barbara Corneo; Bianca Migliori; Raju Tomer; Steven A. Kushner; Christoph Kellendonk; Jonathan A. Javitch; Bin Xu; Sander Markx
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Academic Journal
Strauss, Kevin A. ; Williams, Katie B. ; Carson, Vincent J. ; Poskitt, Laura ; Bowser, Lauren E. ; Young, Millie ; Robinson, Donna L. ; Hendrickson, Christine ; Beiler, Keturah ; Taylor, Cora M. ; Haas-Givler, Barbara ; Hailey, Jennifer ; Chopko, Stephanie ; Puffenberger, Erik G. ; Brigatti, Karlla W. ; Miller, Freeman ; Morton, D. Holmes
In Molecular Genetics and Metabolism November 2020 131(3):325-340
Academic Journal
Strauss, Kevin A. ; Carson, Vincent J. ; Soltys, Kyle ; Young, Millie E. ; Bowser, Lauren E. ; Puffenberger, Erik G. ; Brigatti, Karlla W. ; Williams, Katie B. ; Robinson, Donna L. ; Hendrickson, Christine ; Beiler, Keturah ; Taylor, Cora M. ; Haas-Givler, Barbara ; Chopko, Stephanie ; Hailey, Jennifer ; Muelly, Emilie R. ; Shellmer, Diana A. ; Radcliff, Zachary ; Rodrigues, Ashlin ; Loeven, KaLynn ; Heaps, Adam D. ; Mazariegos, George V. ; Morton, D. Holmes
In Molecular Genetics and Metabolism March 2020 129(3):193-206
Academic Journal
Wang, Jiaming; Poskitt, Laura E.; Gallagher, Jillian; Puffenberger, Erik G.; Wynn, R. Max; Shishodia, Gauri; Chuang, David T.; Beever, Jonathan; Hardin, Donald L.; Brigatti, Karlla W.; Baker, William C.; Gately, Rachael; Bertrand, Stephanie; Rodrigues, Ashlin; Benatti, Hector R.; Taghian, Toloo; Hall, Erin; Prestigiacomo, Rachel; Liang, Jialing; Chen, Gong; Zhou, Xuntao; Ren, Lingzhi; Liu, Nan; He, Ran; Su, Qin; Xie, Jun; Jiang, Zhong; Gruntman, Alisha; Gray-Edwards, Heather; Gao, Guangping; Strauss, Kevin A.; Wang, Dan
Academic Journal
Bowser, Lauren E. ; Young, Millie ; Wenger, Olivia K. ; Ammous, Zineb ; Brigatti, Karlla W. ; Carson, Vincent J. ; Moser, Teresa ; Deline, James ; Aoki, Kazuhiro ; Morlet, Thierry ; Scott, Ethan M. ; Puffenberger, Erik G. ; Robinson, Donna L. ; Hendrickson, Christine ; Salvin, Jonathan ; Gottlieb, Steven ; Heaps, Adam D. ; Tiemeyer, Michael ; Strauss, Kevin A.
In Molecular Genetics and Metabolism April 2019 126(4):475-488
Academic Journal
Strauss, Kevin A.; Carson, Vincent J.; Brigatti, Karlla W.; Young, Millie; Robinson, Donna L.; Hendrickson, Christine; Fox, Michael D.; Reed, Robert M.; Puffenberger, Erik G.; Mackenzie, William; Miller, Freeman
J Pediatr Orthop
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