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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. Zhang C, et al. Among authors: mora s. HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047859 Free PMC article.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V, Varshney P, Bahena P, Alzahrani F, Alhashem A, Pagnamenta AT, Aubertin G, Estrada-Veras JI, Hernández HAD, Mazaheri N, Oza A, Thies J, Renaud DL, Dugad S, McEvoy J, Sultan T, Pais LS, Tabarki B, Villalobos-Ramirez D, Rad A; Genomics England Research Consortium; Galehdari H, Ashrafzadeh F, Sahebzamani A, Saeidi K, Torti E, Elloumi HZ, Mora S, Palculict TB, Yang H, Wren JD, Ben Fowler, Joshi M, Behra M, Burgess SM, Nath SK, Hanna MG, Kenna M, Merritt JL 2nd, Houlden H, Karimiani EG, Zaki MS, Haaf T, Alkuraya FS, Gleeson JG, Varshney GK. Lin SJ, et al. Among authors: mora s. Genet Med. 2021 Oct;23(10):1933-1943. doi: 10.1038/s41436-021-01239-1. Epub 2021 Jun 25. Genet Med. 2021. PMID: 34172899 Free PMC article.
Early Detection of Sepsis With Machine Learning Techniques: A Brief Clinical Perspective.
Giacobbe DR, Signori A, Del Puente F, Mora S, Carmisciano L, Briano F, Vena A, Ball L, Robba C, Pelosi P, Giacomini M, Bassetti M. Giacobbe DR, et al. Among authors: mora s. Front Med (Lausanne). 2021 Feb 12;8:617486. doi: 10.3389/fmed.2021.617486. eCollection 2021. Front Med (Lausanne). 2021. PMID: 33644097 Free PMC article.
Clinical characteristics, management and in-hospital mortality of patients with coronavirus disease 2019 in Genoa, Italy.
Vena A, Giacobbe DR, Di Biagio A, Mikulska M, Taramasso L, De Maria A, Ball L, Brunetti I, Loconte M, Patroniti NA, Robba C, Delfino E, Dentone C, Magnasco L, Nicolini L, Toscanini F, Bavastro M, Cerchiaro M, Barisione E, Giacomini M, Mora S, Baldi F, Balletto E, Berruti M, Briano F, Sepulcri C, Dettori S, Labate L, Mirabella M, Portunato F, Pincino R, Russo C, Tutino S, Pelosi P, Bassetti M; GECOVID study group. Vena A, et al. Among authors: mora s. Clin Microbiol Infect. 2020 Nov;26(11):1537-1544. doi: 10.1016/j.cmi.2020.07.049. Epub 2020 Aug 15. Clin Microbiol Infect. 2020. PMID: 32810610 Free PMC article.
Tocilizumab and steroid treatment in patients with COVID-19 pneumonia.
Mikulska M, Nicolini LA, Signori A, Di Biagio A, Sepulcri C, Russo C, Dettori S, Berruti M, Sormani MP, Giacobbe DR, Vena A, De Maria A, Dentone C, Taramasso L, Mirabella M, Magnasco L, Mora S, Delfino E, Toscanini F, Balletto E, Alessandrini AI, Baldi F, Briano F, Camera M, Dodi F, Ferrazin A, Labate L, Mazzarello G, Pincino R, Portunato F, Tutino S, Barisione E, Bruzzone B, Orsi A, Schenone E, Rosseti N, Sasso E, Da Rin G, Pelosi P, Beltramini S, Giacomini M, Icardi G, Gratarola A, Bassetti M. Mikulska M, et al. Among authors: mora s. PLoS One. 2020 Aug 20;15(8):e0237831. doi: 10.1371/journal.pone.0237831. eCollection 2020. PLoS One. 2020. PMID: 32817707 Free PMC article.
704 results