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Page 1
Wiedemann-Rautenstrauch syndrome: A phenotype analysis.
Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC. Paolacci S, et al. Am J Med Genet A. 2017 Jul;173(7):1763-1772. doi: 10.1002/ajmg.a.38246. Epub 2017 Apr 26. Am J Med Genet A. 2017. PMID: 28447407
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S. Guo L, et al. Among authors: franco jfds. Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982609 Free PMC article.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Montaño AM, et al. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.
Risk factors for developing ventilator-associated lower respiratory tract infection in patients with severe COVID-19: a multinational, multicentre study, prospective, observational study.
Reyes LF, Rodriguez A, Fuentes YV, Duque S, García-Gallo E, Bastidas A, Serrano-Mayorga CC, Ibáñez-Prada ED, Moreno G, Ramirez-Valbuena PC, Ospina-Tascon G, Hernandez G, Silva E, Díaz AM, Jibaja M, Vera-Alarcon M, Díaz E, Bodí M, Solé-Violán J, Ferrer R, Albaya-Moreno A, Socias L, Figueroa W, Lozano-Villanueva JL, Varón-Vega F, Estella Á, Loza-Vazquez A, Jorge-García R, Sancho I, Shankar-Hari M, Martin-Loeches I; LIVEN-Covid-19; SEMICYUC Study Group. Reyes LF, et al. Sci Rep. 2023 Apr 21;13(1):6553. doi: 10.1038/s41598-023-32265-5. Sci Rep. 2023. PMID: 37085552 Free PMC article.
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Horovitz DDG, Leão EKEA, Ribeiro EM, Martins AM, Barth AL, Neri JICF, Kerstenetzky M, Siqueira ACM, Ribeiro BFR, Kim CA, Santos FC, Franco JFS, Lichtvan LCL, Giuliani LR, Rodrigues MDCS, Bonatti RCF, Teixeira TB, Gonçalves A, Lourenço CM, Pereira ASS, Acosta AX. Horovitz DDG, et al. Among authors: franco jfs. Mol Genet Metab. 2021 May;133(1):94-99. doi: 10.1016/j.ymgme.2021.02.006. Epub 2021 Feb 27. Mol Genet Metab. 2021. PMID: 33678523 Free article.
24 results