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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: lamaze a. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Auditory processing disorder in children: the value of a multidisciplinary assessment.
Rouillon I, de Lamaze A, Ribot M, Collet G, de Bollardière T, Elmir R, Parodi M, Achard S, Denoyelle F, Loundon N. Rouillon I, et al. Among authors: de lamaze a. Eur Arch Otorhinolaryngol. 2021 Dec;278(12):4749-4756. doi: 10.1007/s00405-020-06601-8. Epub 2021 Jan 18. Eur Arch Otorhinolaryngol. 2021. PMID: 33462745
The French Cochlear Implant Registry (EPIIC): Perception and language results in infants with cochlear implantation under the age of 24 months.
Loundon N, Simon F, Aubry K, Bordure P, Bozorg-Grayeli A, Deguine O, Eyermann C, Franco-Vidal V, Godey B, Guevara N, Karkas A, Klopp N, Labrousse M, Lebreton JP, Lerosey Y, Lescanne E, Marianowski R, Merklen F, Mezouaghi K, Mom T, Moreau S, Mosnier I, Noël-Petroff N, Parietti-Winkler C, Piller P, Poncet C, Radafy E, Roman S, Roux-Vaillard S, Schmerber S, Tavernier L, Truy E, Vincent C, De Lamaze A. Loundon N, et al. Among authors: de lamaze a. Eur Ann Otorhinolaryngol Head Neck Dis. 2020 Sep;137 Suppl 1:S11-S18. doi: 10.1016/j.anorl.2020.07.010. Epub 2020 Aug 27. Eur Ann Otorhinolaryngol Head Neck Dis. 2020. PMID: 32863156 Free article.
DN1p or the "Fluffy" Cerberus of Clock Outputs.
Lamaze A, Stanewsky R. Lamaze A, et al. Front Physiol. 2020 Jan 8;10:1540. doi: 10.3389/fphys.2019.01540. eCollection 2019. Front Physiol. 2020. PMID: 31969832 Free PMC article. Review.
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