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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 2
1998 5
1999 3
2000 3
2001 3
2002 5
2003 3
2004 2
2005 3
2006 4
2007 2
2008 5
2009 3
2010 2
2011 4
2012 4
2013 3
2014 4
2015 4
2016 3
2017 2
2018 3
2019 4
2020 9
2021 4
2022 5
2023 6
2024 3

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91 results

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Page 1
Alpha-1 antitrypsin deficiency: outstanding questions and future directions.
Torres-Durán M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, Escribano A, Baloira A, Navarro-Garcia MM, Pellicer D, Bañuls L, Magallón M, Casas F, Dasí F. Torres-Durán M, et al. Among authors: martinez delgado b. Orphanet J Rare Dis. 2018 Jul 11;13(1):114. doi: 10.1186/s13023-018-0856-9. Orphanet J Rare Dis. 2018. PMID: 29996870 Free PMC article. Review.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: martinez delgado b. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Gomez-Mariano G, Perez-Luz S, Ramos-Del Saz S, Matamala N, Hernandez-SanMiguel E, Fernandez-Prieto M, Gil-Martin S, Justo I, Marcacuzco A, Martinez-Delgado B. Gomez-Mariano G, et al. Among authors: martinez delgado b. Int J Mol Sci. 2023 Aug 10;24(16):12645. doi: 10.3390/ijms241612645. Int J Mol Sci. 2023. PMID: 37628828 Free PMC article.
SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
López-Martín E, Martínez-Delgado B, Bermejo-Sánchez E, Alonso J; SpainUDP Network; Posada M. López-Martín E, et al. Among authors: martinez delgado b. Int J Environ Res Public Health. 2018 Aug 14;15(8):1746. doi: 10.3390/ijerph15081746. Int J Environ Res Public Health. 2018. PMID: 30110963 Free PMC article.
91 results