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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.
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.
Weight Gain in Overweight and Obese People with HIV-The OBHIV Cohort.
Taramasso L, Dettori S, Ricci E, Lerta S, Mora S, Blanchi S, Giacomini M, Vena A, Bassetti M, Di Biagio A. Taramasso L, et al. Among authors: mora s. J Clin Med. 2024 Feb 21;13(5):1211. doi: 10.3390/jcm13051211. J Clin Med. 2024. PMID: 38592054 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.
Lipid profile changings after switching from rilpivirine/tenofovir disoproxil fumarate/emtricitabine to rilpivirine/tenofovir alafenamide/emtricitabine: Different effects in patients with or without baseline hypercholesterolemia.
Taramasso L, Di Biagio A, Riccardi N, Briano F, Di Filippo E, Comi L, Mora S, Giacomini M, Gori A, Maggiolo F. Taramasso L, et al. Among authors: mora s. PLoS One. 2019 Oct 11;14(10):e0223181. doi: 10.1371/journal.pone.0223181. eCollection 2019. PLoS One. 2019. PMID: 31603906 Free PMC article.
697 results