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KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Safety and immunogenicity of mRNA-1345 RSV vaccine coadministered with an influenza or COVID-19 vaccine in adults aged 50 years or older: an observer-blinded, placebo-controlled, randomised, phase 3 trial.
Goswami J, Cardona JF, Hsu DC, Simorellis AK, Wilson L, Dhar R, Tomassini JE, Wang X, Kapoor A, Collins A, Righi V, Lan L, Du J, Zhou H, Stoszek SK, Shaw CA, Reuter C, Wilson E, Miller JM, Das R; study investigators. Goswami J, et al. Among authors: reuter c. Lancet Infect Dis. 2024 Nov 25:S1473-3099(24)00589-9. doi: 10.1016/S1473-3099(24)00589-9. Online ahead of print. Lancet Infect Dis. 2024. PMID: 39608389
One-year real-world experience with mavacamten and its physiologic effects on obstructive hypertrophic cardiomyopathy.
Kim DS, Chu EL, Keamy-Minor EE, Paranjpe ID, Tang WL, O'Sullivan JW, Desai YB, Liu MB, Munsey E, Hecker K, Cuenco I, Kao B, Bacolor E, Bonnett C, Linder A, Lacar K, Robles N, Lamendola C, Smith A, Knowles JW, Perez MV, Kawana M, Sallam KI, Weldy CS, Wheeler MT, Parikh VN, Salisbury H, Ashley EA; Stanford Center for Inherited Cardiovascular Disease. Kim DS, et al. Front Cardiovasc Med. 2024 Aug 30;11:1429230. doi: 10.3389/fcvm.2024.1429230. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 39314763 Free PMC article.
475 results