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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program; Gahl WA, Gunay-Aygun M. Malicdan MC, et al. Among authors: mian l. J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18. J Med Genet. 2015. PMID: 26386044 Free PMC article.
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M. Stephen J, et al. Among authors: mian l. Hum Genet. 2017 Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20. Hum Genet. 2017. PMID: 28220259 Free PMC article.
A urokinase-associated outbreak of Ralstonia mannitolilytica bloodstream infections in haemodialysis patients in north-eastern Italy, January to April 2023.
Fabricci M, Trinca A, Talotti L, Busetti M, Fotakis EA, Merakou C, Koncan R, Ghiotti A, Negri C, Di Maso V, Bosco M, Antonelli A, Coppi M, Rossolini GM, Giuliani C, Scarpis E, Gregoretti B, Licastro D, Luzzati R, Costantino V; multidisciplinary working group; Multidisciplinary working group. Fabricci M, et al. Euro Surveill. 2023 Jul;28(28):2300328. doi: 10.2807/1560-7917.ES.2023.28.28.2300328. Euro Surveill. 2023. PMID: 37440346 Free PMC article.
Putting Science into Standards workshop on standards for organ-on-chip.
Piergiovanni M, Cangar O, Leite SB, Mian L, Jenet A, Corvi R, Whelan M, Taucer F, Ganesh A. Piergiovanni M, et al. Among authors: mian l. Stem Cell Reports. 2021 Sep 14;16(9):2076-2077. doi: 10.1016/j.stemcr.2021.07.010. Stem Cell Reports. 2021. PMID: 34525383 Free PMC article.
21 results