학술논문
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'학술논문'
에서 검색결과 143건 | 목록
1~20
Academic Journal
Oliver Heath; Brooke Allender; Joel Smith; Elena Savva; Lucy Spencer; Elizabeth G. Bannister; Natasha J. Brown; Maureen S. Evans; Sharmila Kiss; Thomas H. Rozen; Joy Yaplito‐Lee
JIMD Rep
JIMD Reports, Vol 65, Iss 4, Pp 239-248 (2024)
JIMD Reports, Vol 65, Iss 4, Pp 239-248 (2024)
Academic Journal
Oliver Heath; Dinusha Pandithan; James Pitt; Elena Savva; Laura Raiti; Jenny Bracken; Moya Vandeleur; Martin B. Delatycki; Joy Yaplito‐Lee; Winita Hardikar; Rebecca Halligan
JIMD Rep
JIMD Reports, Vol 64, Iss 5, Pp 337-345 (2023)
JIMD Reports, Vol 64, Iss 5, Pp 337-345 (2023)
Academic Journal
Sharmila Kiss; John Christodoulou; David R. Thorburn; Jeremy L. Freeman; Andrew J. Kornberg; Simone Mandelstam; Alison G. Compton; Beryl Cummings; Lynn Pais; Joy Yaplito‐Lee; Susan M. White
American Journal of Medical Genetics Part A. 191:1599-1606
Academic Journal
Righetti, Sarah; Allcock, Richard J. N.; Yaplito-Lee, Joy; Adams, Louisa; Ellaway, Carolyn; Jones, Kristi J.; Selvanathan, Arthavan; Fletcher, Janice; Pitt, James; van Kuilenburg, André B. P.; Delatycki, Martin B.; Laing, Nigel G.; Kirk, Edwin P.
Molecular Genetics and Metabolism. 137:62-67
Academic Journal
Lisa G, Riley; Michael, Nafisinia; Minal J, Menezes; Reta, Nambiar; Andrew, Williams; Elizabeth H, Barnes; Arthavan, Selvanathan; Kate, Lichkus; Drago, Bratkovic; Joy, Yaplito-Lee; Kaustuv, Bhattacharya; Carolyn, Ellaway; Maina, Kava; Shanti, Balasubramaniam; John, Christodoulou
Molecular Genetics and Metabolism. 135:63-71
Academic Journal
Helman, Guy ; Taylor, Lauren E. ; Walkiewicz, Marzena ; Le Moing, Maelle ; Eggers, Stefanie ; Yaplito-Lee, Joy ; Fuller, Maria ; Dabscheck, Gabriel ; Rodriguez-Casero, Victoria ; White, Susan M. ; Simons, Cas
In European Journal of Medical Genetics August 2021 64(8)
Academic Journal
Sharmila Kiss; Joy Yaplito Lee; James Pitt; Duncan MacGregor; Jane Wallace; Melanie Marty; Natasha J. Brown
JIMD Rep
JIMD Reports, Vol 56, Iss 1, Pp 34-39 (2020)
JIMD Reports, Vol 56, Iss 1, Pp 34-39 (2020)
Academic Journal
Alexandra M Johnson; Simone Mandelstam; Ian Andrews; Katja Boysen; Joy Yaplito‐Lee; Michael Fietz; Lakshmi Nagarajan; Victoria Rodriguez‐Casero; Monique M Ryan; Nicholas Smith; Ingrid E Scheffer; Carolyn Ellaway
J Paediatr Child Health
Academic Journal
Carolyn Bursle; Eppie M. Yiu; Alison Yeung; Jeremy L. Freeman; Chloe Stutterd; Richard J. Leventer; Adeline Vanderver; Joy Yaplito‐Lee
JIMD Rep
JIMD Reports, Vol 51, Iss 1, Pp 11-16 (2020)
JIMD Reports, Vol 51, Iss 1, Pp 11-16 (2020)
Academic Journal
Joy Yaplito‐Lee; Gautham Pai; Winita Hardikar; Kai M. Hong; James Pitt; Justine Marum; David J. Amor
JIMD Reports, Vol 56, Iss 1, Pp 14-19 (2020)
Academic Journal
Pronicka, Ewa; Ropacka-Lesiak, Mariola; Trubicka, Joanna; Pajdowska, Magdalena; Linke, Markus; Ostergaard, Elsebet; Saunders, Carol; Horsch, Sandra; van Karnebeek, Clara; Yaplito-Lee, Joy; Distelmaier, Felix; Õunap, Katrin; Rahman, Shamima; Castelle, Martin; Kelleher, John; Baris, Safa; Iwanicka-Pronicka, Katarzyna; Steward, Colin G.; Ciara, Elżbieta; Wortmann, Saskia B.; Piekutowska-Abramczuk, Dorota; Rokicki, Dariusz; Fałek, Olga; Nowak, Anna; Brązert, Krystyna; Green, Andrew; Mayr, Johannes A.
Pronicka, E, Ropacka-Lesiak, M, Trubicka, J, Pajdowska, M, Linke, M, Ostergaard, E, Saunders, C, Horsch, S, van Karnebeek, C, Yaplito -Lee , J, Distelmaier, F, Õunap, K, Rahman, S, Castelle, M, Kelleher, J, Baris, S, Iwanicka-Pronicka, K, Steward, C G, Ciara, E, Wortmann, S B, Piekutowska-Abramczuk, D, Rokicki, D, Fałek, O, Nowak, A, Brązert, K & Mayr, J A 2017, 'A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients', Journal of Inherited Metabolic Disease, pp. 1-8. https://doi.org/10.1007/s10545-017-0057-z
Pronicka, E, Ropacka-Lesiak, M, Trubicka, J, Pajdowska, M, Linke, M, Ostergaard, E, Saunders, C, Horsch, S, van Karnebeek, C,Yaplito -Lee , J, Distelmaier, F, Õunap, K, Rahman, S, Castelle, M, Kelleher, J, Baris, S, Iwanicka-Pronicka, K, Steward, C G, Ciara, E, Wortmann, S B & Additional individual contributors 2017, ' A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients ', Journal of Inherited Metabolic Disease, vol. 40, no. 6, pp. 853-860 . https://doi.org/10.1007/s10545-017-0057-z
J. Inherit. Metab. Dis. 40, 853-860 (2017)
Pronicka, E, Ropacka-Lesiak, M, Trubicka, J, Pajdowska, M, Linke, M, Ostergaard, E, Saunders, C, Horsch, S, van Karnebeek, C,
J. Inherit. Metab. Dis. 40, 853-860 (2017)
Academic Journal
Ian R, Woodcock; Manoj P, Menezes; Lee, Coleman; Joy, Yaplito-Lee; Heidi, Peters; Susan M, White; Rachel, Stapleton; Dean G, Phelan; Belinda, Chong; Sebastian, Lunke; Zornitza, Stark; James, Pitt; Monique M, Ryan; Colin, Robertson; Eppie M, Yiu
Seminars in Pediatric Neurology. 26:2-9
Academic Journal
Journal of Inherited Metabolic Disease. 46:541-542
Academic Journal
Cognitive Neuropsychology. 34:347-356
Academic Journal
Stark, Zornitza ; Tan, Tiong Y. ; Chong, Belinda ; Brett, Gemma R. ; Yap, Patrick ; Walsh, Maie ; Yeung, Alison ; Peters, Heidi ; Mordaunt, Dylan ; Cowie, Shannon ; Amor, David J. ; Savarirayan, Ravi ; McGillivray, George ; Downie, Lilian ; Ekert, Paul G. ; Theda, Christiane ; James, Paul A. ; Yaplito-Lee, Joy ; Ryan, Monique M. ; Leventer, Richard J. ; Creed, Emma ; Macciocca, Ivan ; Bell, Katrina M. ; Oshlack, Alicia ; Sadedin, Simon ; Georgeson, Peter ; Anderson, Charlotte ; Thorne, Natalie ; Gaff, Clara ; White, Susan M.
In Genetics in Medicine November 2016 18(11):1090-1096
Academic Journal
Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Van Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibæk, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric
Ng, B G, Shiryaev, S A, Rymen, D, Eklund, E A, Raymond, K, Kircher, M, Abdenur, J E, Alehan, F, Midro, A T, Bamshad, M J, Barone, R, Berry, G T, Brumbaugh, J E, Buckingham, K J, Clarkson, K, Cole, F S, O'Connor, S, Cooper, G M, Van Coster, R, Demmer, L A, Diogo, L, Fay, A J, Ficicioglu, C, Fiumara, A, Gahl, W A, Ganetzky, R, Goel, H, Harshman, L A, He, M, Jaeken, J, James, P M, Katz, D, Keldermans, L, Kibæk, M, Kornberg, A J, Lachlan, K, Lam, C, Yaplito -Lee , J, Nickerson, D A, Peters, H L, Race, V, Régal, L, Rush, J S, Rutledge, S L, Shendure, J, Souche, E, Sparks, S E, Trapane, P, Sanchez-Valle, A, Vilain, E & University of Washington Center for Mendelian Genomics 2016, ' ALG1-CDG : Clinical and Molecular Characterization of 39 Unreported Patients ', Human Mutation, vol. 37, no. 7, pp. 653-660 . https://doi.org/10.1002/humu.22983
Academic Journal
Veldman, Alex; Santamaria-Araujo, Jose Angel; Sollazzo, Silvio; Pitt, James; Gianello, Robert; Yaplito-Lee, Joy; Wong, Flora; Ramsden, Clive Andrew; Reiss, Jochen; Cook, Iain; Fairweather, Jon; Schwarz, Günter
Pediatrics. 125:e1249-e1254
Academic Journal
Wortmann, Saskia B. ; Ziętkiewicz, Szymon ; Kousi, Maria ; Szklarczyk, Radek ; Haack, Tobias B. ; Gersting, Søren W. ; Muntau, Ania C. ; Rakovic, Aleksandar ; Renkema, G. Herma ; Rodenburg, Richard J. ; Strom, Tim M. ; Meitinger, Thomas ; Rubio-Gozalbo, M. Estela ; Chrusciel, Elzbieta ; Distelmaier, Felix ; Golzio, Christelle ; Jansen, Joop H. ; van Karnebeek, Clara ; Lillquist, Yolanda ; Lücke, Thomas ; Õunap, Katrin ; Zordania, Riina ; Yaplito-Lee, Joy ; van Bokhoven, Hans ; Spelbrink, Johannes N. ; Vaz, Frédéric M. ; Pras-Raves, Mia ; Ploski, Rafal ; Pronicka, Ewa ; Klein, Christine ; Willemsen, Michel A.A.P. ; de Brouwer, Arjan P.M. ; Prokisch, Holger ; Katsanis, Nicholas ; Wevers, Ron A.
In The American Journal of Human Genetics 5 February 2015 96(2):245-257
Academic Journal
Journal of Translational Genetics and Genomics.
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