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Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A. Marrakchi S, et al. Among authors: mansour s. N Engl J Med. 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068. N Engl J Med. 2011. PMID: 21848462 Free article.
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Cluzeau C, et al. Among authors: mansour s. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384. Hum Mutat. 2011. PMID: 20979233
Rapid HCV Engagement and Treatment in Hospitalized Patients.
Perera H, Keeshan A, Imsirovic H, Patern J, Castaneda R, Simmons JG, Mansour S, Cooper C. Perera H, et al. Among authors: mansour s. Clin Infect Dis. 2024 Nov 21:ciae574. doi: 10.1093/cid/ciae574. Online ahead of print. Clin Infect Dis. 2024. PMID: 39569427 No abstract available.
Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation.
Ramakrishnan R, Mallinson C, Hardy S, Broughan J, Blyth M, Melis G, Franklin C, Hill M, Mellis R, Wu WH, Allen S, Chitty LS, Knight M; EXPRESS Clinical Outcomes Group. Ramakrishnan R, et al. Front Genet. 2024 Nov 6;15:1485306. doi: 10.3389/fgene.2024.1485306. eCollection 2024. Front Genet. 2024. PMID: 39568676 Free PMC article.
1,065 results