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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18.
Am J Hum Genet. 2016.
PMID: 27545681
Free PMC article.
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, Davies SJ, Lebel RR, Henderson A, Schaaf CP, Streff HE, Yang Y, Jain V, Chida N, Latypova X, Le Caignec C, Cogné B, Mercier S, Vincent M, Colin E, Bonneau D, Denommé AS, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Piton A, Dina C, Donnart A, Lindenbaum P, Charpentier E, Redon R, Iemura K, Ikeda M, Tanaka K, Bézieau S.
Isidor B, et al. Among authors: denomme as.
Hum Mutat. 2016 Apr;37(4):354-8. doi: 10.1002/humu.22952. Epub 2016 Feb 4.
Hum Mutat. 2016.
PMID: 26751395
Free article.
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A.
Courraud J, et al. Among authors: denomme as.
Genet Med. 2021 Nov;23(11):2150-2159. doi: 10.1038/s41436-021-01263-1. Epub 2021 Aug 3.
Genet Med. 2021.
PMID: 34345024
Free article.
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Ex vivo simulation of cardiopulmonary bypass with human blood for hemocompatibility testing.
Teligui L, Dalmayrac E, Corbeau JJ, Bouquet E, Godon A, Denommé AS, Binuani P, Verron L, Boer C, Baufreton C.
Teligui L, et al. Among authors: denomme as.
Perfusion. 2016 Jul;31(5):376-83. doi: 10.1177/0267659115599454. Epub 2015 Aug 4.
Perfusion. 2016.
PMID: 26243277
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Patients with dual MPO- and PR3-ANCA do not present primary systemic necrotizing vasculitis.
Denommé AS, Lakomy D, Olsson N, Augusto JF, Subra JF, Puéchal X, Chevailler A.
Denommé AS, et al.
Joint Bone Spine. 2015 Jul;82(4):292-4. doi: 10.1016/j.jbspin.2014.11.004. Epub 2015 Jan 23.
Joint Bone Spine. 2015.
PMID: 25623521
No abstract available.
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An ex vivo evaluation of blood coagulation and thromboresistance of two extracorporeal circuit coatings with reduced and full heparin dose.
Teligui L, Dalmayrac E, Mabilleau G, Macchi L, Godon A, Corbeau JJ, Denommé AS, Bouquet E, Boer C, Baufreton C.
Teligui L, et al. Among authors: denomme as.
Interact Cardiovasc Thorac Surg. 2014 Jun;18(6):763-9. doi: 10.1093/icvts/ivu011. Epub 2014 Mar 14.
Interact Cardiovasc Thorac Surg. 2014.
PMID: 24632424
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