학술논문
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'학술논문'
에서 검색결과 39건 | 목록
1~20
Academic Journal
Rollins, Julie V.; Shah, Bhavesh; Van Marter, Linda; Martin, Camilla; Ware, Janice; Rollins, Caitlin; Cole, Cynthia; Perrin, Ellen; Sakai, Christina; Bednarek, Frank; Ehrenkranz, Richard; Benjamin, Jennifer; Montgomery, Angela; O'Shea, Michael; Washburn, Lisa; Bose, Carl; Warner, Diane; Engelke, Steve; Higginson, Amanda; Higginson, Jason; Bear, Kelly; Poortenga, Mariel; Pastyrnak, Steve; Karna, Padu; Paneth, Nigel; Schreiber, Michael; Hunter, Scott; Batton, Danny; Klarr, Judith; Lee, Young Ah; Obeid, Rawad; Christianson, Karen; Klein, Deborah; Pimental, Maureen; Hallisey, Collen; Coster, Taryn; Dolins, Maddie; Nylen, Ellen; Neger, Emily; Mattern, Kathryn; Venuti, Lauren; Powers, Beth; Foley, Ann; Williams, Joanne; Romano, Elaine; Hiatt, Debbie; Peters, Nancy; Brown, Patricia; Ansusinha, Emily; James, Jazmyne; Yang, Nou; Bose, Gennie; Wereszczak, Janice; Bernhardt, Janice; Wilson, Donna; Darden-Saad, Nancy; Sutton, Dinah; Rathbun, Julie; Gile, Cynthia; Karen, Miras; Solomon, Carolyn; Weiland, Deborah; Yoon, Grace; Ramoskaite, Rugile; Wiggins, Suzanne; Washington, Krissy; Martin, Ryan; Prendergast, Barbara; Lynch, Emma; Smith, Anne; McQuiston, Susan; Butler, Samantha; Wilson, Rachel; McGhee, Kirsten; Lee, Patricia; Asgarian, Aimee; Sadhwani, Anjali; Henson, Brandi; Keller, Cecelia; Walkowiak, Jenifer; Barron, Susan; Miller, Alice; Dessureau, Brian; Wood, Molly; Damon-Minow, Jill; Mayes, Linda; Tsatsanis, Kathy; Chawarska, Katarzyna; Kim, Sophy; Dieterich, Susan; Bearrs, Karen; Waldrep, Ellen; Friedman, Jackie; Hounshell, Gail; Allred, Debbie; Helms, Rebecca; Whitley, Lynn; Gary Stainback; Bostic, Lisa; Jacobson, Amanda; McKeeman, Joni; Meyer, Echo; Price, Joan; Lloyd, Megan; Plesha-Troyke, Susan; Scott, Megan; Solomon, Katherine M.; Brooklier, Kara; Vogt, Kelly; Vaidya, Ruben ; Yi, Joe X. ; O'Shea, T. Michael ; Jensen, Elizabeth T. ; Joseph, Robert M. ; Shenberger, Jeffrey S. ; Makker, Kartikeya ; Yanni, Diana ; Frazier, Jean A. ; Fry, Rebecca ; Msall, Michael ; Gogcu, Semsa ; Singh, Rachana
In The Journal of Pediatrics October 2025 285
Academic Journal
Rollins, Julie V.; Shah, Bhavesh; Van Marter, Linda; Martin, Camilla; Ware, Janice; Rollins, Caitlin; Cole, Cynthia; Perrin, Ellen; Sakai, Christina; Bednarek, Frank; Ehrenkranz, Richard; Benjamin, Jennifer; Montgomery, Angela; O'Shea, T. Michael; Washburn, Lisa; Bose, Carl; Warner, Diane; Engelke, Steve; Higginson, Amanda; Higginson, Jason; Bear, Kelly; Poortenga, Mariel; Pastyrnak, Steve; Karna, Padu; Paneth, Nigel; Lenski, Madeleine; Schreiber, Michael; Hunter, Scott; Klein, Deborah; Pimental, Maureen; Hallisey, Collen; Coster, Taryn; Dolins, Maddie; Mittleman, Maggie; Haile, Hannah; Rohde, Julia; Pujols, Kaysi Herrera; Nylen, Ellen; Neger, Emily; Mattern, Kathryn; Ma, Catherine; Toner, Deanna; Vitaro, Elizabeth; Venuti, Lauren; Powers, Beth; Foley, Ann; EdM; Merk, Taylor; Williams, Joanne; Romano, Elaine; Henry, Christine; Hiatt, Debbie; Peters, Nancy; Brown, Patricia; Ansusinha, Emily; James, Jazmyne; Yang, Nou; Bose, Gennie; Wereszczak, Janice; Bernhardt, Janice; Adams, Joan; Wilson, Donna; Darden-Saad, Nancy; Williams, Bree; Jones, Emily; Morris, Hannah; Sutton, Dinah; Rathbun, Julie; Fagerman, Stephanie; Boshoven, William; Johnson, Jalen; James, Brandon; Gile, Cynthia; Miras, Karen; Solomon, Carolyn; Weiland, Deborah; Ramoskaite, Rugile; Wiggins, Suzanne; Washington, Krissy; Martin, Ryan; Prendergast, Barbara; Lynch, Emma; Hajdarovic, Sabina; Kring, Beth; Smith, Anne; McQuiston, Susan; Butler, Samantha; Wilson, Rachel; McGhee, Kirsten; Lee, Patricia; Asgarian, Aimee; Sadhwani, Anjali; Henson, Brandi; Keller, Cecelia; Walkowiak, Jenifer; Barron, Susan; Miller, Alice; Dessureau, Brian; Wood, Molly; Damon-Minow, Jill; Mayes, Linda; Tsatsanis, Kathy; Chawarska, Katarzyna; Kim, Sophy; Dieterich, Susan; Bearrs, Karen; Waldrep, Ellen; Friedman, Jackie; Hounshell, Gail; Allred, Debbie; Helms, Rebecca; Whitley, Lynn; Stainback, Gary; Bostic, Lisa; Jacobson, Amanda; McKeeman, Joni; Meyer, Echo; Price, Joan; Lloyd, EdS; Megan; Plesha-Troyke, Susan; Scott, Megan; Solomon, Katherine M.; Brooklier, Kara; Vogt, Kelly; Marinelli, Timothy ; Yi, Joe X. ; O'Shea, T.Michael ; Joseph, Robert M. ; Hooper, Stephen R. ; Kuban, Karl C.K. ; Msall, Michael E. ; Fry, Rebecca ; Singh, Rachana
In The Journal of Pediatrics August 2024 271
Academic Journal
Shah, Bhavesh ; Singh, Rachana ; Smith, Anne ; Klein, Deborah ; McQuiston, Susan ; Rollins, Julie ; Douglass, Laurie ; Ware, Janice ; Coster, Taryn ; Henson, Brandi ; Wilson, Rachel ; McGhee, Kirsten ; Lee, Patricia ; Asgarian, Aimee ; Sadhwani, Anjali ; Perrin, Ellen ; Neger, Emily ; Mattern, Kathryn ; Walkowiak, Jenifer ; Barron, Susan ; Frazier, Jean ; Venuti, Lauren ; Powers, Beth ; Foley, Ann ; Dessureau, Brian ; Wood, Molly ; Damon-Minow, Jill ; Ehrenkranz, Richard ; Benjamin, Jennifer ; Romano, Elaine ; Tsatsanis, Kathy ; Chawarska, Katarzyna ; Kim, Sophy ; Dieterich, Susan ; Bearrs, Karen ; O'Shea, T. Michael ; Peters, Nancy ; Brown, Patricia ; Ansusinha, Emily ; Waldrep, Ellen ; Friedman, Jackie ; Hounshell, Gail ; Allred, Debbie ; Engelke, Stephen C. ; Darden-Saad, Nancy ; Stainback, Gary ; Warner, Diane ; Wereszczak, Janice ; Bernhardt, Janice ; McKeeman, Joni ; Meyer, Echo ; Pastyrnak, Steve ; Burdo-Hartman, Wendy ; Rathbun, Julie ; Nota, Sarah ; Crumb, Teri ; Lenski, Madeleine ; Weiland, Deborah ; Lloyd, Megan ; Hunter, Scott ; Msall, Michael ; Ramoskaite, Rugile ; Wiggins, Suzanne ; Washington, Krissy ; Martin, Ryan ; Prendergast, Barbara ; Scott, Megan ; Klarr, Judith ; Kring, Beth ; DeRidder, Jennifer ; Vogt, Kelly ; Jensen, Elizabeth T. ; van der Burg, Jelske W. ; O'Shea, Thomas M. ; Joseph, Robert M. ; Allred, Elizabeth N. ; Heeren, Tim ; Leviton, Alan ; Kuban, Karl C.K.
In The Journal of Pediatrics August 2017 187:50-57
Academic Journal
Van Coster, RN; Gerlo, EA; Giardina, TG; Engelke, UF; Smet, JE; De Praeter, CM; Meersschaut, VA; De Meirleir, LJ; Seneca, SH; Devreese, B; Leroy, JG; Herga, S; Perrier, JP; Wevers, RA; Lissens, W
Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)
Academic Journal
Academic Journal
Leroy, JG; Seppala, R; Huizing, M; Dacremont, G; De Simpel, H; Van Coster, RN; Orvisky, E; Krasnewich, DM; Gahl, WA
Academic Journal
De Praeter, CM; Gerwig, GJ; Bause, E; Nuytinck, LK; Vliegenthart, JFG; Breuer, W; Kamerling, JP; Espeel, MF; Martin, JJR; De Paepe, AM; Chan, NWC; Dacremont, GA; Van Coster, RN
Academic Journal
Vantroys, Elise; Smet, Jonl; Vanlander, Arnaud V.; Vergult, Sarah; De Bruyne, Ruth; Roels, Frank; Stepman, Hedwig; Roeyers, Herbert; Menten, Bjorn; Van Coster, Rudy
Orphanet Journal of Rare Diseases. May 21, 2018, Vol. 13 Issue 1
Academic Journal
Academic Journal
Crow YJ; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.; Chase DS; Lowenstein Schmidt J; Szynkiewicz M; Forte GM; Gornall HL; Oojageer A; Anderson B; Pizzino A; Helman G; Abdel-Hamid MS; Abdel-Salam GM; Ackroyd S; Aeby A; Agosta G; Albin C; Allon-Shalev S; Arellano M; Ariaudo G; Aswani V; Babul-Hirji R; Baildam EM; Bahi-Buisson N; Bailey KM; Barnerias C; Barth M; Battini R; Beresford MW; Bernard G; Bianchi M; Billette de Villemeur T; Blair EM; Bloom M; Burlina AB; Carpanelli ML; Carvalho DR; Castro-Gago M; Cavallini A; Cereda C; Chandler KE; Chitayat DA; Collins AE; Sierra Corcoles C; Cordeiro NJ; Crichiutti G; Dabydeen L; Dale RC; D'Arrigo S; De Goede CG; De Laet C; De Waele LM; Denzler I; Desguerre I; Devriendt K; Di Rocco M; Fahey MC; Fazzi E; Ferrie CD; Figueiredo A; Gener B; Goizet C; Gowrinathan NR; Gowrishankar K; Hanrahan D; Isidor B; Kara B; Khan N; King MD; Kirk EP; Kumar R; Lagae L; Landrieu P; Lauffer H; Laugel V; La Piana R; Lim MJ; Lin JP; Linnankivi T; Mackay MT; Marom DR; Marques Lourenço C; McKee SA; Moroni I; Morton JE; Moutard ML; Murray K; Nabbout R; Nampoothiri S; Nunez-Enamorado N; Oades PJ; Olivieri I; Ostergaard JR; Pérez-Dueñas B; Prendiville JS; Ramesh V; Rasmussen M; Régal L; Ricci F; Rio M; Rodriguez D; Roubertie A; Salvatici E; Segers KA; Sinha GP; Soler D; Spiegel R; Stödberg TI; Straussberg R; Swoboda KJ; Suri M; Tacke U; Tan TY; te Water Naude J; Wee Teik K; Thomas MM; Till M; Tonduti D; Valente EM; Van Coster RN; van der Knaap MS; Vassallo G; Vijzelaar R; Vogt J; Wallace GB; Wassmer E; Webb HJ; Whitehouse WP; Whitney RN; Zaki MS; Zuberi SM; Livingston JH; Rozenberg F; Lebon P; Vanderver A; Orcesi S; Rice GI
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Academic Journal
Academic Journal
Celie BM; 1 26656 Department of Movement and Sports Sciences, Ghent University, Ghent, Belgium.; Mariman A; 2 Department of General Internal Medicine, Ghent University Hospital, Ghent, Belgium.; 3 Center for Neurophysiologic Monitoring, Ghent University Hospital, Ghent, Belgium.; Boone J; 1 26656 Department of Movement and Sports Sciences, Ghent University, Ghent, Belgium.; 4 Centre of Sports Medicine, Ghent University Hospital, Ghent, Belgium.; Delesie L; 2 Department of General Internal Medicine, Ghent University Hospital, Ghent, Belgium.; Tobback E; 2 Department of General Internal Medicine, Ghent University Hospital, Ghent, Belgium.; 3 Center for Neurophysiologic Monitoring, Ghent University Hospital, Ghent, Belgium.; Seneca S; 5 Centre for Medical Genetics, University Hospital Brussels, Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Group, Vrije Universiteit Brussel (VUB), Brussels, Belgium.; De Paepe B; 6 60200 Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.; Vogelaers D; 2 Department of General Internal Medicine, Ghent University Hospital, Ghent, Belgium.; 3 Center for Neurophysiologic Monitoring, Ghent University Hospital, Ghent, Belgium.; Van Coster RN; 6 60200 Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.; Bourgois JG; 1 26656 Department of Movement and Sports Sciences, Ghent University, Ghent, Belgium.; 4 Centre of Sports Medicine, Ghent University Hospital, Ghent, Belgium.
Publisher: Sage Country of Publication: United States NLM ID: 0372406 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-3530 (Electronic) Linking ISSN: 00037028 NLM ISO Abbreviation: Appl Spectrosc Subsets: MEDLINE
Academic Journal
Academic Journal
Celie BM; Department of Movement and Sports Sciences, Ghent University, Watersportlaan 2, 9000 Ghent, Belgium.; Boone J; Smet JE; Vanlander AV; De Bleecker JL; Van Coster RN; Bourgois JG
Publisher: Sage Country of Publication: United States NLM ID: 0372406 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-3530 (Electronic) Linking ISSN: 00037028 NLM ISO Abbreviation: Appl Spectrosc Subsets: MEDLINE
Academic Journal
Zecic A; Department of Neonatology, Ghent University Hospital, Ghent 9000, Belgium.; Smet JE; De Praeter CM; Vanhaesebrouck P; Viscomi C; Van Den Broecke C; De Paepe B; Lohse P; Martin JJ; Jackson JG; Campbell CR; De Meirleir LJ; Zeviani M; Seneca SH; Lissens W; Van Coster RN
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE
Academic Journal
Rice G; Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.; Patrick T; Parmar R; Taylor CF; Aeby A; Aicardi J; Artuch R; Montalto SA; Bacino CA; Barroso B; Baxter P; Benko WS; Bergmann C; Bertini E; Biancheri R; Blair EM; Blau N; Bonthron DT; Briggs T; Brueton LA; Brunner HG; Burke CJ; Carr IM; Carvalho DR; Chandler KE; Christen HJ; Corry PC; Cowan FM; Cox H; D'Arrigo S; Dean J; De Laet C; De Praeter C; Dery C; Ferrie CD; Flintoff K; Frints SG; Garcia-Cazorla A; Gener B; Goizet C; Goutieres F; Green AJ; Guet A; Hamel BC; Hayward BE; Heiberg A; Hennekam RC; Husson M; Jackson AP; Jayatunga R; Jiang YH; Kant SG; Kao A; King MD; Kingston HM; Klepper J; van der Knaap MS; Kornberg AJ; Kotzot D; Kratzer W; Lacombe D; Lagae L; Landrieu PG; Lanzi G; Leitch A; Lim MJ; Livingston JH; Lourenco CM; Lyall EG; Lynch SA; Lyons MJ; Marom D; McClure JP; McWilliam R; Melancon SB; Mewasingh LD; Moutard ML; Nischal KK; Ostergaard JR; Prendiville J; Rasmussen M; Rogers RC; Roland D; Rosser EM; Rostasy K; Roubertie A; Sanchis A; Schiffmann R; Scholl-Burgi S; Seal S; Shalev SA; Corcoles CS; Sinha GP; Soler D; Spiegel R; Stephenson JB; Tacke U; Tan TY; Till M; Tolmie JL; Tomlin P; Vagnarelli F; Valente EM; Van Coster RN; Van der Aa N; Vanderver A; Vles JS; Voit T; Wassmer E; Weschke B; Whiteford ML; Willemsen MA; Zankl A; Zuberi SM; Orcesi S; Fazzi E; Lebon P; Crow YJ
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Academic Journal
Verhelst HE; Department of Child Neurology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium. helene.verhelst@ugent.be; Beele H; Joos R; Vanneuville B; Van Coster RN
Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1090-3798 (Print) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE
Academic Journal
Engelke UF; Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Nijmegen, The Netherlands.; Sass JO; Van Coster RN; Gerlo E; Olbrich H; Krywawych S; Calvin J; Hart C; Omran H; Wevers RA
Publisher: Wiley Country of Publication: England NLM ID: 8915233 Publication Model: Print Cited Medium: Print ISSN: 0952-3480 (Print) Linking ISSN: 09523480 NLM ISO Abbreviation: NMR Biomed Subsets: MEDLINE
Academic Journal
Van Daele SG; Department of Pediatrics, Ghent University, School of Medicine, Belgium.; Van Coster RN; Meire F; Smets AM; Leroy JG
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE
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