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Items: 1 to 20 of 95

1.
Eran Tallis, Cecile L. Karsenty, Amanda B. Grimes, Lina B. Karam, Sarah H. Elsea, Vernon Reed Sutton, Brandy L. Rawls‐Castillo, Ning Liu, Claudia Soler‐Alfonso
JIMD Rep. 2022 Jul; 63(4): 309–315. Published online 2022 May 22. doi: 10.1002/jmd2.12304
PMCID:
PMC9259396
2.
David C. Dale, Audrey Anna Bolyard, Tracy Marrero, Merideth L. Kelley, Vahagn Makaryan, Emily Tran, Jamie Leung, Laurence A. Boxer, Priya S. Kishnani, Stephanie Austin, Corbinian Wanner, Iris A. Ferrecchia, Dina Khalaf, Dawn Maze, Joanne Kurtzberg, Cornelia Zeidler, Karl Welte, David A. Weinstein
Curr Opin Hematol.
Published in final edited form as: Curr Opin Hematol. 2019 Jan; 26(1): 16–21. doi: 10.1097/MOH.0000000000000474
PMCID:
PMC7000169
3.
Rui Ma, Fardad Moein Vaziri, Gregory J. Sabino, Nima D. Sarmast, Steven M. Zove, Vincent J. Iacono, Julio A. Carrion
Dent J (Basel) 2018 Dec; 6(4): 53. Published online 2018 Oct 3. doi: 10.3390/dj6040053
PMCID:
PMC6313740
4.
Raajiv Prasad, Jane Estrella, John Christodoulou, Geoffrey McKellar, Michel C. Tchan
JIMD Rep. 2018; 42: 5–8. Published online 2017 Nov 9. doi: 10.1007/8904_2017_67
PMCID:
PMC6226394
5.
Rihwa Choi, Hyung-Doo Park, Jung Min Ko, Jeongho Lee, Dong Hwan Lee, Suk Jin Hong, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yon Ho Choe
Ann Lab Med. 2017 May; 37(3): 261–266. Published online 2017 Feb 17. doi: 10.3343/alm.2017.37.3.261
PMCID:
PMC5339099
6.
N Bashan, Y Hagai, R Potashnik, S W Moses
J Clin Invest. 1988 May; 81(5): 1317–1322. doi: 10.1172/JCI113457
PMCID:
PMC442558
7.
Zhuolin Wang, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Li Ma, Haiyan Fu
J Int Med Res. 2023 Dec; 51(12): 03000605231216633. Published online 2023 Dec 12. doi: 10.1177/03000605231216633
PMCID:
PMC10718061
8.
K.A. Krishnamurthy, M.G.S. Rutten, J.A. Hoogerland, T.H. van Dijk, T. Bos, M. Koehorst, M.P. de Vries, N.J. Kloosterhuis, H. Havinga, B.V. Schomakers, M. van Weeghel, J.C. Wolters, B.M. Bakker, M.H. Oosterveer
Mol Metab. 2024 Jan; 79: 101838. Published online 2023 Nov 22. doi: 10.1016/j.molmet.2023.101838
PMCID:
PMC10716006
9.
Lauren V. Collen, Peter E. Newburger, Scott B. Snapper
JPGN Rep. 2023 Nov; 4(4): e356. Published online 2023 Aug 28. doi: 10.1097/PG9.0000000000000356
PMCID:
PMC10684244
10.
Margherita Calia, Andrea Mario Luciano Arosio, Viola Crescitelli, Anna Fornari, Roberta Pretese, Serena Gasperini, Giovanna Zuin
Therap Adv Gastroenterol. 2023; 16: 17562848231202138. Published online 2023 Sep 28. doi: 10.1177/17562848231202138
PMCID:
PMC10540602
11.
Simona Murko, Manuela Peschka, Konstantinos Tsiakas, Sebastian Schulz-Jürgensen, Uta Herden, René Santer
Mol Genet Metab Rep. 2023 Jun; 35: 100977. Published online 2023 May 4. doi: 10.1016/j.ymgmr.2023.100977
PMCID:
PMC10233270
12.
Maria Veiga-da-Cunha, Saskia B. Wortmann, Sarah C. Grünert, Emile Van Schaftingen
Diagnostics (Basel) 2023 May; 13(10): 1803. Published online 2023 May 19. doi: 10.3390/diagnostics13101803
PMCID:
PMC10217388
13.
Magdalena Kaczor, Dorota Wesół-Kucharska, Milena Greczan, Karolina Kierus, Łukasz Kałużny, Monika Duś-Żuchowska, Ewa Ehmke vel Emczyńska-Seliga, Elżbieta Ciara, Janusz Książyk, Dariusz Rokicki
Pediatr Endocrinol Diabetes Metab. 2022 Sep; 28(3): 207–212. Published online 2022 May 12. doi: 10.5114/pedm.2022.116115
PMCID:
PMC10214975
14.
Arianna Maiorana, Francesco Tagliaferri, Carlo Dionisi-Vici
Front Endocrinol (Lausanne) 2023; 14: 1145111. Published online 2023 Apr 21. doi: 10.3389/fendo.2023.1145111
PMCID:
PMC10160627
15.
Sarah C. Grünert, Annieke Venema, Jamas LaFreniere, Blair Schneider, Enrique Contreras, Saskia B. Wortmann, Terry G. J. Derks
JIMD Rep. 2023 May; 64(3): 252–258. Published online 2023 Apr 19. doi: 10.1002/jmd2.12364
PMCID:
PMC10159866
16.
Sudeep Gautam, Lisa Zhang, Cheol Lee, Irina Arnaoutova, Hung Dar Chen, Roberta Resaz, Alessandra Eva, Brian C Mansfield, Janice Y Chou
Hum Mol Genet. 2023 Jan 15; 32(2): 262–275. Published online 2022 Aug 12. doi: 10.1093/hmg/ddac197
PMCID:
PMC10148728
17.
Abrar Turki, Sylvia Stockler, Sandra Sirrs, Kathleen Duddy, Gloria Ho, Rajavel Elango
Mol Genet Metab Rep. 2023 Mar; 34: 100955. Published online 2023 Jan 3. doi: 10.1016/j.ymgmr.2023.100955
PMCID:
PMC9826966
18.
Zufit Hexner-Erlichman, Maria Veiga-da-Cunha, Yoav Zehavi, Zahava Vadasz, Adi D. Sabag, Sameh Tatour, Ronen Spiegel
Front Pediatr. 2022; 10: 1071464. Published online 2022 Nov 23. doi: 10.3389/fped.2022.1071464
PMCID:
PMC9727171
19.
Konstantinos Makrilakis, Aikaterini Barmpagianni, Maria Veiga-da-Cunha
Cureus. 2022 Jul; 14(7): e27264. Published online 2022 Jul 25. doi: 10.7759/cureus.27264
PMCID:
PMC9403211
20.
Joanna Bidiuk, Zbigniew A. Gaciong, Piotr Sobieraj
Arch Med Sci. 2022; 18(4): 1095–1099. Published online 2022 Jun 23. doi: 10.5114/aoms/150029
PMCID:
PMC9266796

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