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Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Ahmed ZM; Masmoudi S; Kalay E; Belyantseva IA; Mosrati MA; Collin RW; Riazuddin S; Hmani-Aifa M; Venselaar H; Kawar MN; Tlili A; van der Zwaag B; Khan SY; Ayadi L; Riazuddin SA; Morell RJ; Griffith AJ; Charfedine I; Caylan R; Oostrik J; Karaguzel A; Ghorbel A; Riazuddin S; Friedman TB; Ayadi H; Kremer H.
Nat Genet
(Unknown)
Published: 2008
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
Rahimov F; Marazita ML; Visel A; Cooper ME; Hitchler MJ; Rubini M; Domann FE; Govil M; Christensen K; Bille C; Melbye M; Jugessur A; Lie RT; Wilcox AJ; Fitzpatrick DR; Green ED; Mossey PA; Little J; Steegers-Theunissen RP; Pennacchio LA; Schutte BC; Murray JC.
Nat Genet
(Unknown)
Published: 2008
A variant in the CD209 promoter is associated with severity of dengue disease.
Sakuntabhai A; Turbpaiboon C; Casadémont I; Chuansumrit A; Lowhnoo T; Kajaste-Rudnitski A; Kalayanarooj SM; Tangnararatchakit K; Tangthawornchaikul N; Vasanawathana S; Chaiyaratana W; Yenchitsomanus PT; Suriyaphol P; Avirutnan P; Chokephaibulkit K; Matsuda F; Yoksan S; Jacob Y; Lathrop GM; Malasit P; Desprès P; Julier C.
Nat Genet
(Unknown)
Published: 2005