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Items: 1 to 20 of 115

1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Mariavittoria D’Acierno, Roberta Resaz, Anna Iervolino, Rikke Nielsen, Donato Sardella, Sabrina Siccardi, Vincenzo Costanzo, Luciano D’Apolito, Yoko Suzumoto, Daniela Segalerba, Simonetta Astigiano, Alessandra F. Perna, Giovambattista Capasso, Alessandra Eva, Francesco Trepiccione
J Am Soc Nephrol. 2022 Oct; 33(10): 1864–1875. Published online 2022 Oct. doi: 10.1681/ASN.2021070935
PMCID:
PMC9528317
11.
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
12.
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
13.
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
14.
Sarah Catharina Grünert, Stefanie Rosenbaum‐Fabian, Anke Schumann, Anne‐Christine Selbitz, Waltraut Merz, Andrea Gieselmann, Ute Spiekerkoetter
JIMD Rep. 2022 Jul; 63(4): 303–308. Published online 2022 May 18. doi: 10.1002/jmd2.12295
PMCID:
PMC9259388
15.
Rebecca K. Halligan, R. Neil Dalton, Charles Turner, Katherine A. Lewis, Helen R. Mundy
Orphanet J Rare Dis. 2022; 17: 195. Published online 2022 May 12. doi: 10.1186/s13023-022-02345-2
PMCID:
PMC9096769
16.
Magdalena Kaczor, Milena Greczan, Karolina Kierus, Ewa Ehmke vel Emczyńska‐Seliga, Elżbieta Ciara, Barbara Piątosa, Dariusz Rokicki, Janusz Książyk, Dorota Wesół‐Kucharska
JIMD Rep. 2022 May; 63(3): 199–206. Published online 2022 Mar 2. doi: 10.1002/jmd2.12278
PMCID:
PMC8995836
17.
Roberta Resaz, Federica Raggi, Daniela Segalerba, Chiara Lavarello, Alessandra Gamberucci, Maria Carla Bosco, Simonetta Astigiano, Antonia Assunto, Daniela Melis, Mariavittoria D'Acierno, Maria Veiga-da-Cunha, Andrea Petretto, Paola Marcolongo, Francesco Trepiccione, Alessandra Eva
Mol Genet Metab Rep. 2021 Dec; 29: 100813. Published online 2021 Oct 20. doi: 10.1016/j.ymgmr.2021.100813
PMCID:
PMC8531659
18.
Fengyu Wang, Fengli Wang, Xiaojun Zhou, Yingjie Yi, Jie Zhao
Front Pediatr. 2021; 9: 671536. Published online 2021 Aug 17. doi: 10.3389/fped.2021.671536
PMCID:
PMC8416156
19.
Alessandro Rossi, Erasmo Miele, Simona Fecarotta, Maria Veiga-da-Cunha, Massimo Martinelli, Carmine Mollica, Maria D’Armiento, Enza Mozzillo, Pietro Strisciuglio, Terry G. J. Derks, Annamaria Staiano, Giancarlo Parenti
Ital J Pediatr. 2021; 47: 149. Published online 2021 Jul 2. doi: 10.1186/s13052-021-01100-w
PMCID:
PMC8254289
20.
Frederick Chi-Wai Lui, Oswens Siu-Hung Lo
World J Clin Cases. 2021 Jun 6; 9(16): 4081–4089. Published online 2021 Jun 6. doi: 10.12998/wjcc.v9.i16.4081
PMCID:
PMC8180209

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