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853 results

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Page 1
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: guzman c. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Zenker M, et al. Among authors: guzman c. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597
Oblique facial clefts in Johanson-Blizzard syndrome.
Corona-Rivera JR, Zapata-Aldana E, Bobadilla-Morales L, Corona-Rivera A, Peña-Padilla C, Solis-Hernández E, Guzmán C, Richmond E, Zahl C, Zenker M, Sukalo M. Corona-Rivera JR, et al. Among authors: guzman c. Am J Med Genet A. 2016 Jun;170(6):1495-501. doi: 10.1002/ajmg.a.37630. Epub 2016 Mar 17. Am J Med Genet A. 2016. PMID: 26989884 Review.
[Wilson's disease: pediatric experience in Costa Rica].
Jiménez G, Cambronero V, Morales C, Mora A, Guzmán C, Jiménez-Rivera C. Jiménez G, et al. Among authors: guzman c. Gastroenterol Hepatol. 2009 Apr;32(4):274-8. doi: 10.1016/j.gastrohep.2008.12.003. Epub 2009 Apr 16. Gastroenterol Hepatol. 2009. PMID: 19371968 Spanish.
HeberNasvac: Development and Application in the Context of Chronic Hepatitis B.
Aguilar JC, Akbar SM, Al-Mahtab M, Khan MSI, Guzman CA, Fernandez G, Aguiar JA, Michel ML, Bourgine M, Marrero MA, Trittel S, Ebensen T, Riese P, Le Grand R, Herate C, Mauras A, Yoshida O, Hiasa Y, Penton E, Guillen GE. Aguilar JC, et al. Among authors: guzman ca. Euroasian J Hepatogastroenterol. 2024 Jul-Dec;14(2):221-237. doi: 10.5005/jp-journals-10018-1457. Epub 2024 Dec 27. Euroasian J Hepatogastroenterol. 2024. PMID: 39802853 Free PMC article. Review.
Boosting Vaccine Research: The 16-Year Journey of TRANSVAC Vaccine Infrastructure.
Martin W, Luís C, Jungbluth S, Slezak M, Verreck FAW, Spiegel H, Guzman CA, Roldão A, Carrondo MJT, Van der Ley P, Segalés J, Dockrell HM, Ho MM, Pedersen GK, Lawrenz M, Olesen OF. Martin W, et al. Among authors: guzman ca. Vaccines (Basel). 2024 Dec 22;12(12):1446. doi: 10.3390/vaccines12121446. Vaccines (Basel). 2024. PMID: 39772106 Free PMC article. Review.
Vaccination Schedule and Age Influence Impaired Responsiveness to Hepatitis B Vaccination: A Randomized Trial in Central Asia.
Heisig J, Nurmatov ZS, Riese P, Trittel S, Sattarova GJ, Temirbekova SN, Zhumagulova GZ, Nuridinova ZN, Derkenbaeva AA, Arykbaeva BK, Dzhangaziev BI, Prokein J, Klopp N, Illig T, Guzmán CA, Kasymov OT, Akmatov MK, Pessler F. Heisig J, et al. Among authors: guzman ca. Pathogens. 2024 Dec 9;13(12):1082. doi: 10.3390/pathogens13121082. Pathogens. 2024. PMID: 39770341 Free PMC article. Clinical Trial.
853 results