학술논문
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'학술논문'
에서 검색결과 495건 | 목록
1~20
Academic Journal
Miller, Judith S., PhD; Farmer, Cristan, PhD; Blair, Susan, MS, PT; Bianconi, Simona, MD; Akshoomoff, Natacha, PhD; Anselm, Irina, MD; Barshop, Bruce A., MD, PhD; Becker, Lindsey, BS; Bennett, Amanda E., MD, MPH; Berry, Leandra N., PhD; Berry-Kravis, Elizabeth M., MD, PhD; Bruchey, Aleksandra, PhD; Byars, Anna W., PhD; Cimms, Tricia, MPH; Cecil, Kim M., PhD; Covello, Maxine, BS; Cubit, Laura S., PhD; Das, Tanvi, PhD; Davis, Robert J., PharmD; Drye, Madison, BS; Ficicioglu, Can, MD, PhD; Fulton, John B., PhD; Goin-Kochel, Robin P., PhD; Guthrie, Whitney, PhD; Hallinan, Barbara E., MD, PhD; Hannah-Shmouni, Fady, MD; Gustafson, Kathryn E., PhD; Koeberl, Dwight D., MD, PhD; Longo, Nicola, MD, PhD; Mamak, Eva, PhD; Mercimek-Andrews, Saadet, MD, PhD; Michalak, Claire; Porter, Forbes D., MD, PhD; Rahhal, Samar, MD; Rees, Linda, MBChB; Spiridigliozzi, Gail A., PhD; Stone, Caitlin, MA; Sullivan, Nancy R., PhD; Sutton, V. Reid, MD; Thomas, Rebecca P., PhD; Udhnani, Manisha, MS; Waisbren, Susan, PhD; Xu, Michelle, MS; Zhang, Lin, PhD; Brandabur, Melanie, MD; Thurm, Audrey, PhD
Pediatric Neurology. 175:8-18
Academic Journal
Eric L. Wallace; Christoph Wanner; Giovanni Piotti; David Lee; Irene Koulinska; Raul Chertkoff; David G. Warnock; Ozlem Goker-Alpan; William R. Wilcox; Myrl Holida; John Bernat; Nicola Longo; Aleš Linhart; Derralynn A. Hughes; Robert J. Hopkin; Camilla Tøndel; Mirjam Langeveld; Pilar Giraldo; Antonio Pisani; Dominique Paul Germain; Ankit Mehta; Patrick B. Deegan; Maria Judit Molnar; Damara Ortiz; Ana Jovanovic; Michael Muriello; Bruce A. Barshop; Virginia Kimonis; Bojan Vujkovac; Albina Nowak; Tarekegn Geberhiwot; Ilkka Kantola; Jasmine Knoll; Stephen Waldek; Khan Nedd; Amel Karaa
Kidney International Reports, Vol 11, Iss 2, Pp 103691- (2026)
Academic Journal
Taryn Diep; Wesley Zhou; Rachel E. Reyes; Matthew Nitzahn; Isabel L. Day; Georgios Makris; Lindsay Lueptow; Irina Zhuravka; Stuti Bakshi; Jon Gangoiti; Hyacinth Padaon; Yunfeng Li; Bruce A. Barshop; Johannes Haberle; Gerald S. Lipshutz
Molecular Therapy: Nucleic Acids, Vol 36, Iss 1, Pp 102470- (2025)
Academic Journal
Chan, Lillian; Wichart, Jenny; Kiang, Tony; Khurana, Rshmi; Gangoiti, Jon A.; Barshop, Bruce A.; Midgley, Julian
Kidney Int Rep
Academic Journal
Geng, Huimin; Tsang, Mazie; Subbaraj, Lakshmipriya; Cleveland, Joseph; Chen, Lingjing; Lu, Ming; Sharma, Jigyasa; Vigneron, Daniel B; Kurhanewicz, John; LaFontaine, Marisa; Luks, Tracy; Barshop, Bruce A; Gangoiti, Jon; Villanueva-Meyer, Javier E; Rubenstein, James L
Neuro-Oncology, vol 23, iss 10
Academic Journal
Ferreira, Carlos R.; Rahman, Shamima; Keller, Markus; Zschocke, Johannes; Abdenur, Jose; Ali, Houda; Artuch, Rafael; Ballabio, Andrea; Barshop, Bruce; Baumgartner, Matthias; Bertini, Enrico Silvio; Blau, Nenad; Carelli, Valerio; Carroll, Christopher; Chinnery, Patrick F.; Christodoulou, John; Cornejo, Veronica; Darin, Niklas; Derks, Terry; Diodato, Daria; Dionisi-Vici, Carlo; Duley, John A.; Fukao, T. Toshi; García-Cazorla, Ángeles; Giugliani, Roberto; Goldstein, Amy; Hoffmann, Georg; Horvath, Rita; Ibarra, Isabel; Inwood, Anita; Jaeken, Jaak; Jimenez-Mallebrera, Cecilia; Karaa, Amel; Klopstock, Thomas; Kölker, Stefan; Kornblum, Cornelia; Kožich, Viktor; Lamperti, Costanza; Larsson, Nils Göran; Lemes, Aida; Lewis, Barry; Mancuso, Michelangelo; McFarland, Robert; Mochel, Fanny; Montoya, Julio; Morava, Eva; Naess, Karin; Okuyama, Torayuki; Olry, Annie; Paquis-Flucklinger, Veronique; Parikh, Sumit; Patterson, Marc; Pérez de Ferrán, Ceila; Peters, Verena; Prokisch, Holger; Saada, Ann; Salomons, Gajja S.; Saudubray, Jean Marie; Scarpa, Maurizio; Schara-Schmidt, Ulrike; Schiff, Manuel; Servidei, Serenella; Smeitink, Jan; Suomalainen, Anu; Tangeraas, Trine; Taylor, Robert W.; Thiele, Ines; Thorburn, David; Van Hove, Johan; Van der Ploeg, Ans T.; Van Karnebeek, Clara; Visser, Gepke; Vockley, Jerry; Wanders, Ronald; Webster, Dianne; Wedell, Anna; Wiley, Veronica; Wredenberg, Anna; Zeviani, Massimo
Journal of inherited metabolic disease, vol 44, iss 1
Academic Journal
John Bernat; Eric Wallace; Ozlem Goker-Alpan; William Wilcox; Myrl Holida; Nicola Longo; Derralynn Hughes; Pilar Giraldo; Maria Molnar; Damara Ortiz; Robert Hopkin; Camilla Tondel; Ales Linhart; Patrick Deegan; Ana Jovanovic; Michael Muriello; Bruce Barshop; Virginia Kimonis; Bojan Vujkovac; Albina Nowak; Tarekegn Hiwot; Antonio Pisani; Dominique Germain; Ilkka Kantola; Jasmine Knoll; Ankit Mehta; Stephen Waldek; Einat Almon; Sari Alon; Raul Chertkoff; Rossana Rocco; David Warnock
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100015- (2023)
Academic Journal
Farmer, Cristan; Kaat, Aaron; Thurm, Audrey; Anselm, Irina; Akshoomoff, Natacha; Bennett, Amanda; Berry, Leandra; Bruchey, Aleksandra; Barshop, Bruce; Berry-Kravis, Elizabeth; Bianconi, Simona; Cecil, Kim; Davis, Robert; Ficicioglu, Can; Porter, Forbes; Wainer, Allison; Goin-Kochel, Robin; Leonczyk, Caroline; Guthrie, Whitney; Koeberl, Dwight; Love-Nichols, Jamie; Mamak, Eva; Mercimek-Andrews, Saadet; Thomas, Rebecca; Spiridigliozzi, Gail; Sullivan, Nancy; Sutton, Vernon; Udhnani, Manisha; Waisbren, Susan; Miller, Judith
American Journal on Intellectual and Developmental Disabilities, vol 125, iss 6
Wallace, Eric L; Goker-Alpan, Ozlem; Wilcox, William R; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Aleš; Hughes, Derralynn A; Hopkin, Robert J; Tøndel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A; Kimonis, Virginia; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, Khan; Karaa, Amel; et al
Academic Journal
Bernd C. Schwahn; Thomas Scheffner; Hedwig Stepman; Peter Verloo; Anibh M Das; Janice Fletcher; Henk J Blom; Jean‐Francois Benoist; Bruce A. Barshop; Jaime J. Barea; Annette Feigenbaum
JIMD Reports, Vol 52, Iss 1, Pp 3-10 (2020)
Academic Journal
Thompson, Miles D. ; Knaus, Alexej A. ; Barshop, Bruce A. ; Caliebe, Almuth ; Muhle, Hiltrud ; Nguyen, Thi Tuyet Mai ; Baratang, Nissan V. ; Kinoshita, Taroh ; Percy, Maire E. ; Campeau, Philippe M. ; Murakami, Yoshiko ; Cole, David E. ; Krawitz, Peter M. ; Mabry, C. Charlton
In European Journal of Medical Genetics April 2020 63(4)
Academic Journal
In Clinica Chimica Acta December 2019 499:13-15
Book
In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:761-777
Academic Journal
Shepard, Peter J; Barshop, Bruce A; Baumgartner, Matthias R; Hansen, John-Bjarne; Jepsen, Kristen; Smith, Erin N; Frazer, Kelly A
Genet Med
Genetics in Medicine, vol 17, iss 8
Genetics in Medicine, vol 17, iss 8
Book
In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:897-916
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Academic Journal
Barry J. Byrne; Tarekegn Geberhiwot; Bruce A. Barshop; Richard Barohn; Derralynn Hughes; Drago Bratkovic; Claude Desnuelle; Pascal Laforet; Eugen Mengel; Mark Roberts; Peter Haroldsen; Kristin Reilley; Kala Jayaram; Ke Yang; Liron Walsh; on behalf of the POM-001/002 Investigators
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
Academic Journal
Jennifer Concepcion; Katherine Chen; Rintaro Saito; Jon Gangoiti; Eric Mendez; Maria Eleni Nikita; Bruce A Barshop; Loki Natarajan; Kumar Sharma; Jane J Kim
PLoS ONE, Vol 15, Iss 6, p e0234970 (2020)
Academic Journal
Sawh, Mary Catherine; Wallace, Martina; Shapiro, Emma; Goyal, Nidhi P.; Newton, Kimberly P.; Yu, Elizabeth L.; Bross, Craig; Durelle, Janis; Knott, Cynthia; Gangoiti, Jon A.; Barshop, Bruce A.; Gengatharan, Jivani M.; Meurs, Noah; Schlein, Alexandra; Middleton, Michael S.; Sirlin, Claude B.; Metallo, Christian M.; Schwimmer, Jeffrey B.
Journal of Pediatric Gastroenterology and Nutrition. Dec 30, 2020
Academic Journal
Zhang-Rutledge, Kathy; Vy, Tran; Magallanes, Celestine; Roeder, Hilary; Pantham, Priya; Srinivasan, Srimeenakshi; Barshop, Bruce A; Gertsman, Ilya; Laurent, Louise C
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, vol 224, iss 2
Academic Journal
Sawh, Mary Catherine; Wallace, Martina; Shapiro, Emma; Goyal, Nidhi P; Newton, Kimberly P; Yu, Elizabeth L; Bross, Craig; Durelle, Janis; Knott, Cynthia; Gangoiti, Jon A; Barshop, Bruce A; Gengatharan, Jivani M; Meurs, Noah; Schlein, Alexandra; Middleton, Michael S; Sirlin, Claude B; Metallo, Christian M; Schwimmer, Jeffrey B
Journal of Pediatric Gastroenterology and Nutrition, vol 72, iss 4
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[검색어] Barshop, Bruce A.
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