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A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Lorès P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Touré A. Lorès P, et al. Among authors: cavarocchi e. Hum Genet. 2021 Jul;140(7):1031-1043. doi: 10.1007/s00439-021-02270-7. Epub 2021 Mar 10. Hum Genet. 2021. PMID: 33689014
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Lorès P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Touré A. Lorès P, et al. Among authors: cavarocchi e. Hum Genet. 2021 Jul;140(7):1045. doi: 10.1007/s00439-021-02278-z. Hum Genet. 2021. PMID: 33770252 No abstract available.
Kitten Scanner reduces the use of sedation in pediatric MRI.
Cavarocchi E, Pieroni I, Serio A, Velluto L, Guarnieri B, Sorbi S. Cavarocchi E, et al. J Child Health Care. 2019 Jun;23(2):256-265. doi: 10.1177/1367493518788476. Epub 2018 Jul 26. J Child Health Care. 2019. PMID: 30049224