학술논문
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'학술논문'
에서 검색결과 334건 | 목록
1~20
Academic Journal
Schulze, Andreas ; García-Cazorla, Angeles ; Ficicioglu, Can ; Harding, Cary O. ; Lam, Christina ; nd<%2Fce%3Asup>">Coughlin, Curtis R., 2nd<%2Fce%3Asup>">Lawrence Merritt, J., 2 Lund, A M & for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E -IMD) Consortia Study Group 2022, ' Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency ', Annals of Clinical and Translational Neurology, vol. 9, no. 11, pp. 1715-1726 . https://doi.org/10.1002/acn3.51668
Academic Journal
Van Hove, Johan L.K. ; Friederich, Marisa W. ; Hock, Daniella H. ; Stroud, David A. ; Caruana, Nikeisha J. ; Christians, Uwe ; Schniedewind, Björn ; Michel, Cole R. ; Reisdorph, Richard ; Lopez Gonzalez, Edwin D.J. ; Brenner, Charles ; Donovan, Tonia E. ; Lee, Jessica C. ; Chatfield, Kathryn C. ; Larson, Austin A. ; Baker, Peter R., II ; McCandless, Shawn E. ; Moore Burk, Meghan F.
In Mitochondrion September 2024 78
Academic Journal
Mew, Nicholas Ah ; Seminara, Jennifer ; Burrage, Lindsay C. ; Berry, Gerard T. ; Breilyn, Margo ; Schulze, Andreas ; Harding, Cary O. ; Berry, Susan A. ; Wong, Derek ; McCandless, Shawn E. ; Baumgartner, Matthias R. ; Konczal, Laura ; Ficicioglu, Can ; Diaz, George A. ; Coughlin, Curtis R., 2nd ; Enns, Gregory M. ; Gallagher, Renata C. ; Lam, Christina ; Stricker, Tamar ; Wilkening, Greta ; Dionisi-Vici, Carlo ; Dobbelaere, Dries ; Blasco-Alonso, Javier ; Burlina, Alberto B. ; Freisinger, Peter ; van Hasselt, Peter M. ; Skouma, Anastasia ; Lund, Allan M. ; Vara, Roshni ; Sarajlija, Adrijan ; Morris, Andrew A. ; Chakrapani, Anupam ; Barić, Ivo ; Augoustides-Savvopoulou, Persephone ; Chien, Yin-Hsiu ; Cortès-Saladelafont, Elisenda ; Eyskens, Francois ; Gramer, Gwendolyn ; Zeman, Jiri ; Karall, Daniela ; Couce, Maria L. ; Mühlhausen, Chris ; Pedrón-Giner, Consuelo ; Spiekerkoetter, Ute ; Sykut-Cegielska, Jolanta ; Wagenmakers, Margreet ; Wijburg, Frits A. ; Posset, Roland ; Garbade, Sven F. ; Gleich, Florian ; Scharre, Svenja ; Okun, Jürgen G. ; Gropman, Andrea L. ; Nagamani, Sandesh C.S. ; Druck, Ann-Catrin ; Epp, Friederike ; Hoffmann, Georg F. ; Kölker, Stefan ; Zielonka, Matthias
In Genetics in Medicine April 2024 26(4)
Academic Journal
Schulze, Andreas ; Ficicioglu, Can ; Harding, Cary O. ; Lam, Christina ; Coughlin, Curtis R., 2nd ; Wong, Derek ; Diaz, George A. ; Berry, Gerard T. ; Enns, Gregory M. ; Wilkening, Greta ; Seminara, Jennifer ; Konczal, Laura ; Lawrence Merritt, J., 2nd ; Burrage, Lindsay C. ; Breilyn, Margo ; Baumgartner, Matthias R. ; Mew, Nicholas Ah. ; Gallagher, Renata C. ; McCandless, Shawn E. ; Berry, Susan A. ; Stricker, Tamar ; Zielonka, Matthias ; Kölker, Stefan ; Garbade, Sven F. ; Gleich, Florian ; Nagamani, Sandesh C.S. ; Gropman, Andrea L. ; Druck, Ann-Catrin ; Ramdhouni, Nesrine ; Göde, Laura ; Hoffmann, Georg F. ; Posset, Roland
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Academic Journal
Strong, Theresa V.; Miller, Jennifer L.; McCandless, Shawn E.; Gevers, Evelien; Yanovski, Jack A.; Matesevac, Lisa; Bohonowych, Jessica; Ballal, Shaila; Yen, Kristen; Hirano, Patricia; Cowen, Neil M.; Bhatnagar, Anish
Journal of Neurodevelopmental Disorders. 16(1)
Academic Journal
Roof, Elizabeth; Deal, Cheri L.; McCandless, Shawn E.; Cowan, Ronald L.; Miller, Jennifer L.; Hamilton, Jill K.; Roeder, Elizabeth R.; McCormack, Shana E.; Lal, Tamanna R. Roshan; Abdul-Latif, Hussein D.; Haqq, Andrea M.; Obrynba, Kathryn S.; Torchen, Laura C.; Vidmar, Alaina P.; Viskochil, David H.; Chanoine, Jean-Pierre; Lam, Carol K.L.; Pierce, Melinda J.; Williams, Laurel L.; Bird, Lynne M.; Butler, Merlin G.; Jensen, Diane E.; Myers, Susan E.; Oatman, Oliver J.; Baskaran, Charumathi; Chalmers, Laura J.; Fu, Cary; Alos, Nathalie; McLean, Scott D.; Shah, Ajay; Whitman, Barbara Y.; Blumenstein, Brent A.; Leonard, Sarah F.; Ernest, Jessica P.; Cormier, Joseph W.; Cotter, Sara P.; Ryman, Davis C.
Journal of Clinical Endocrinology & Metabolism. July, 2023, Vol. 108 Issue 7, p1696, 13 p.
Academic Journal
Grant, Mitzie L. ; Jurecki, Elaina R. ; McCandless, Shawn E. ; Stahl, Stephen M. ; Bilder, Deborah A. ; Sanchez-Valle, Amarilis ; Dimmock, David
In The Journal of Pediatrics September 2023 260
Academic Journal
Kripps, Kimberly A. ; Baker, Peter R., II ; Thomas, Janet A. ; Skillman, Heather E. ; Bernstein, Laurie ; Gaughan, Sommer ; Burns, Casey ; Coughlin, Curtis R., II ; McCandless, Shawn E. ; Larson, Austin A. ; Kochar, Aaina ; Stillman, Chelsey F. ; Wymore, Erica M. ; Hendricks, Ellie G. ; Woontner, Michael ; Van Hove, Johan L.K.
In Molecular Genetics and Metabolism July 2021 133(3):231-241
Academic Journal
Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Garcia‐Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn E; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter; Berry, Susan A; Burrage, Lindsay; Coughlin, Curtis; Diaz, George A; Gallagher, Renata C; Gropman, Andrea; Harding, Cary O; Lee, Brendan; Le Mons, Cynthia; Lawrence Merritt, J; Nagamani, Sandesh CS; Schulze, Andreas; Stricker, Tamar; Tuchman, Mendel; Waisbren, Susan; WeisfeldAdams, James; Wong, Derek; Yudkoff, Marc; Arnoux, JeanBaptiste; Barić, Ivo; Bosch, Annet M; Chabrol, Brigitte; Chakrapani, Anupam; CortèsSaladefont, Elisenda; Couce, Maria L; Eyskens, Francois; Laet, Corine; Meirleir, Linda; Freisinger, Peter; Gleich, Florian; Grünewald, Stephanie; Häberle, Johannes; Hwu, WuhLiang; Jalan, Anil; Karall, Daniela; Lindner, Martin; Lund, Allan M; Martinelli, Diego; Murphy, Elaine; Mühlhausen, Chris; Olivieri, Giorgia; Ottolenghi, Chris; Rodrigues, Esmeralda; Rubert, Laura; Sarajlija, Adrijan; Schiff, Manuel; Sokal, Etienne; SykutCegielska, Jolanta; Walter, John H; Williams, Monique; Zeman, Jiri
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P, Teles,E L, Vara, R, Mew, N A, Batshaw, M L, Baumgartner, M R, McCandless , S E , Seminara, J, Summar, M, Hoffmann, G F, Kölker, S, Burgard, P, Additional individual contributors of the UCDC and the E -IMD consortium & Zeman, J 2019, 'Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 93-106. https://doi.org/10.1002/jimd.12031
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of Inherited Metabolic Disease, vol 42, iss 1
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P, Teles,
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of Inherited Metabolic Disease, vol 42, iss 1
Academic Journal
Waisbren, Susan ; Burton, Barbara K. ; Feigenbaum, Annette ; Konczal, Laura L. ; Lilienstein, Joshua ; McCandless, Shawn E. ; Rowell, Richard ; Sanchez-Valle, Amarilis ; Whitehall, Kaleigh B. ; Longo, Nicola
In Molecular Genetics and Metabolism February 2021 132(2):119-127
Academic Journal
Longo, Nicola ; Diaz, George A. ; Lichter-Konecki, Uta ; Schulze, Andreas ; Inbar-Feigenberg, Michal ; Conway, Robert L. ; Bannick, Allison A. ; McCandless, Shawn E. ; Zori, Roberto ; Hainline, Bryan ; Ah Mew, Nicholas ; Canavan, Colleen ; Vescio, Thomas ; Kok, Teresa ; Porter, Marty H. ; Berry, Susan A.
In Molecular Genetics and Metabolism January 2021 132(1):19-26
Academic Journal
Jessica E. Bohonowych; Caroline J. Vrana-Diaz; Jennifer L. Miller; Shawn E. McCandless; Theresa V. Strong
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-6 (2021)
Academic Journal
Volkan Okur; Zefu Chen; Liesbeth Vossaert; Sandra Peacock; Jill Rosenfeld; Lina Zhao; Haowei Du; Emily Calamaro; Amanda Gerard; Sen Zhao; Jill Kelsay; Ashley Lahr; Chloe Mighton; Hillary M. Porter; Amy Siemon; Josh Silver; Shayna Svihovec; Chin-To Fong; Christina L. Grant; Jordan Lerner-Ellis; Kandamurugu Manickam; Suneeta Madan-Khetarpal; Shawn E. McCandless; Chantal F. Morel; G. Bradley Schaefer; Elizabeth M. Berry-Kravis; Ryan Gates; Natalia Gomez-Ospina; Guixing Qiu; Terry Jianguo Zhang; Zhihong Wu; Linyan Meng; Pengfei Liu; Daryl A. Scott; James R. Lupski; Christine M. Eng; Nan Wu; Bo Yuan
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Academic Journal
Hallgrímsson, Benedikt ; Aponte, J. David ; Katz, David C. ; Bannister, Jordan J. ; Riccardi, Sheri L. ; Mahasuwan, Nick ; McInnes, Brenda L. ; Ferrara, Tracey M. ; Lipman, Danika M. ; Neves, Amanda B. ; Spitzmacher, Jared A.J. ; Larson, Jacinda R. ; Bellus, Gary A. ; Pham, Anh M. ; Aboujaoude, Elias ; Benke, Timothy A. ; Chatfield, Kathryn C. ; Davis, Shanlee M. ; Elias, Ellen R. ; Enzenauer, Robert W. ; French, Brooke M. ; Pickler, Laura L. ; Shieh, Joseph T.C. ; Slavotinek, Anne ; Harrop, A. Robertson ; Innes, A. Micheil ; McCandless, Shawn E. ; McCourt, Emily A. ; Meeks, Naomi J.L. ; Tartaglia, Nicole R. ; Tsai, Anne C.-H. ; Wyse, J. Patrick H. ; Bernstein, Jonathan A. ; Sanchez-Lara, Pedro A. ; Forkert, Nils D. ; Bernier, Francois P. ; Spritz, Richard A. ; Klein, Ophir D.
In Genetics in Medicine October 2020 22(10):1682-1693
Book
Klaus and Fanaroff's Care of the High-Risk Neonate. :121-147
Academic Journal
Diaz, George A. ; Schulze, Andreas ; Longo, Nicola ; Rhead, William ; Feigenbaum, Annette ; Wong, Derek ; Merritt, J. Lawrence, II ; Berquist, William ; Gallagher, Renata C. ; Bartholomew, Dennis ; McCandless, Shawn E. ; Smith, Wendy E. ; Harding, Cary O. ; Zori, Roberto ; Lichter-Konecki, Uta ; Vockley, Jerry ; Canavan, Colleen ; Vescio, Thomas ; Holt, Robert J. ; Berry, Susan A.
In Molecular Genetics and Metabolism August 2019 127(4):336-345
Academic Journal
Posset, Roland; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Burrage, Lindsay C.; Bedoyan, Jirair K.; Wong, Derek; Berry, Gerard T.; Baumgartner, Matthias R.; Yudkoff, Marc; Zielonka, Matthias; Hoffmann, Georg F.; Burgard, Peter; Schulze, Andreas; McCandless, Shawn E.; Garcia‐Cazorla, Angeles; Seminara, Jennifer; Garbade, Sven F.; Kölker, Stefan; Lee, Brendan; Harding, Cary O.; Coughlin, Curtis R.; Le Mons, Cynthia; Dobbelaere, Dries; Leão Teles, Elisa; Cortès‐Saladelafont, Elisenda; Gleich, Florian; Eyskens, Francois; Enns, Gregory; Wilkening, Greta N.; Barić, Ivo; Lawrence Merritt, J.; Heringer, Jana; Blasco‐Alonso, Javier; Zeman, Jiri; Häberle, Johannes; Sykut‐Cegielska, Jolanta; Djordjevic, Maja; Batshaw, Mark L.; Summar, Marshall; Freisinger, Peter; Gallagher, Renata C.; Berry, Susan A.; Waisbren, Susan; Stricker, Tamar; for the Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group
Annals of Neurology. 86:116-128
Academic Journal
Berry, Susan A. ; Vockley, Jerry ; Vinks, Alexander A. ; Dong, Min ; Diaz, George A. ; McCandless, Shawn E. ; Smith, Wendy E. ; Harding, Cary O. ; Zori, Roberto ; Ficicioglu, Can ; Lichter-Konecki, Uta ; Perdok, Renee ; Robinson, Beth ; Holt, Robert J. ; Longo, Nicola
In Molecular Genetics and Metabolism November 2018 125(3):251-257
Academic Journal
Ah Mew, Nicholas; Cnaan, Avital; McCarter, Robert; Choi, Henry; Glass, Penny; Rice, Katie; Scavo, Louis; Gillespie, Catherine W.; Diaz, George A.; Berry, Gerard T.; Wong, Derek; Konczal, Laura; McCandless, Shawn E.; Coughlin II, Curtis R.; Weisfeld-Adams, James D.; Ficicioglu, Can; Yudkoff, Mark; Enns, Gregory M.; Lichter-Konecki, Uta; Gallagher, Renata; Tuchman, Mendel
Transl Sci Rare Dis
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[검색어] McCandless, Shawn E.
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