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2002 2
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Page 1
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A. Saadi A, et al. Am J Med Genet A. 2023 Sep;191(9):2274-2289. doi: 10.1002/ajmg.a.63335. Epub 2023 Jun 30. Am J Med Genet A. 2023. PMID: 37387251
In-port derivatization after sorptive extractions.
Bizkarguenaga E, Iparragirre A, Navarro P, Olivares M, Prieto A, Vallejo A, Zuloaga O. Bizkarguenaga E, et al. J Chromatogr A. 2013 Jun 28;1296:36-46. doi: 10.1016/j.chroma.2013.03.058. Epub 2013 Mar 28. J Chromatogr A. 2013. PMID: 23598160 Review.
Three-dimensional structure of human monoamine oxidase A (MAO A): relation to the structures of rat MAO A and human MAO B.
De Colibus L, Li M, Binda C, Lustig A, Edmondson DE, Mattevi A. De Colibus L, et al. Proc Natl Acad Sci U S A. 2005 Sep 6;102(36):12684-9. doi: 10.1073/pnas.0505975102. Epub 2005 Aug 29. Proc Natl Acad Sci U S A. 2005. PMID: 16129825 Free PMC article.
In addition to serving as a basis for the development of hMAO A specific inhibitors, these data support the proposal that hMAO A involves a change from the dimeric to the monomeric form through a Glu-151 --> Lys mutation that is specific of hMAO A [Andres, A. M., Soldevila, M. …
In addition to serving as a basis for the development of hMAO A specific inhibitors, these data support the proposal that hMAO A involves a …
Retention-time locked methods in gas chromatography.
Etxebarria N, Zuloaga O, Olivares M, Bartolomé LJ, Navarro P. Etxebarria N, et al. J Chromatogr A. 2009 Mar 6;1216(10):1624-9. doi: 10.1016/j.chroma.2008.12.038. Epub 2008 Dec 25. J Chromatogr A. 2009. PMID: 19150537 Review.
Electronic Properties of Sulfur Covered Ru(0001) Surfaces.
Pisarra M, Díaz C, Bernardo-Gavito R, Navarro JJ, Black A, Calleja F, Granados D, Miranda R, Vázquez de Parga AL, Martín F. Pisarra M, et al. J Phys Chem A. 2018 Mar 1;122(8):2232-2240. doi: 10.1021/acs.jpca.7b11586. Epub 2018 Feb 16. J Phys Chem A. 2018. PMID: 29381066 Free article.
103 results