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Page 1
Did you mean yau, k[au] (497 results)?
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: yauy k. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N. Hennocq Q, et al. Among authors: yauy k. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Sabbagh Q, et al. Among authors: yauy k. Genet Med. 2024 Jan;26(1):101007. doi: 10.1016/j.gim.2023.101007. Epub 2023 Oct 17. Genet Med. 2024. PMID: 37860968 Free article.
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity.
Caballero-Oteyza A, Crisponi L, Peng XP, Yauy K, Volpi S, Giardino S, Freeman AF, Grimbacher B, Proietti M. Caballero-Oteyza A, et al. Among authors: yauy k. J Allergy Clin Immunol. 2024 Mar;153(3):831-843. doi: 10.1016/j.jaci.2023.11.022. Epub 2023 Nov 30. J Allergy Clin Immunol. 2024. PMID: 38040041 Free article.
[Non-invasive prenatal screening].
Yauy K, Geneviève D. Yauy K, et al. Rev Prat. 2019 Feb;69(2):e55. Rev Prat. 2019. PMID: 30983238 French. No abstract available.
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Wells CF, Boursier G, Yauy K, Ruiz-Pallares N, Mechin D, Ruault V, Tharreau M, Blanchet P, Pinson L, Coubes C, Fila M, Baleine J, Pidoux O, Badr M, Milesi C, Cambonie G, Mesnage R, Dereure M, Ardouin O, Guignard T, Geneviève D, Barat-Houari M, Willems M. Wells CF, et al. Among authors: yauy k. Eur J Hum Genet. 2022 Sep;30(9):1076-1082. doi: 10.1038/s41431-022-01133-7. Epub 2022 Jun 22. Eur J Hum Genet. 2022. PMID: 35729264 Free PMC article.
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Rouxel F, Yauy K, Boursier G, Gatinois V, Barat-Houari M, Sanchez E, Lacombe D, Arpin S, Giuliano F, Haye D, Rio M, Toutain A, Dieterich K, Brischoux-Boucher E, Julia S, Nizon M, Afenjar A, Keren B, Jacquette A, Moutton S, Jacquemont ML, Duflos C, Capri Y, Amiel J, Blanchet P, Lyonnet S, Sanlaville D, Genevieve D. Rouxel F, et al. Among authors: yauy k. Eur J Hum Genet. 2022 Jun;30(6):682-686. doi: 10.1038/s41431-021-00994-8. Epub 2021 Nov 22. Eur J Hum Genet. 2022. PMID: 34803161 Free PMC article.
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Ruault V, Yauy K, Fabre A, Fradin M, Van-Gils J, Angelini C, Baujat G, Blanchet P, Cuinat S, Isidor B, Jorgensen C, Lacombe D, Moutton S, Odent S, Sanchez E, Sigaudy S, Touitou I, Willems M, Apparailly F, Geneviève D, Barat-Houari M. Ruault V, et al. Among authors: yauy k. Arthritis Rheumatol. 2020 Oct;72(10):1689-1693. doi: 10.1002/art.41387. Epub 2020 Aug 25. Arthritis Rheumatol. 2020. PMID: 32510848 Free article.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Yauy K, Lecoquierre F, Baert-Desurmont S, Trost D, Boughalem A, Luscan A, Costa JM, Geromel V, Raymond L, Richard P, Coutant S, Broutin M, Lanos R, Fort Q, Cackowski S, Testard Q, Diallo A, Soirat N, Holder JM, Duforet-Frebourg N, Bouge AL, Beaumeunier S, Bertrand D, Audoux J, Genevieve D, Mesnard L, Nicolas G, Thevenon J, Philippe N. Yauy K, et al. Genet Med. 2022 Jun;24(6):1316-1327. doi: 10.1016/j.gim.2022.02.008. Epub 2022 Mar 17. Genet Med. 2022. PMID: 35311657 Free article.
22 results