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Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK. Stanley KJ, et al. Among authors: kim rh. Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01629-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38778082
Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.
Ingley KM, Zatzman M, Fontebasso AM, Lo W, Subasri V, Goldenberg A, Li Y, Davidson S, Kanwar N, Waldman L, Brunga L, Babichev Y, Demicco EG, Gupta A, Szybowska M, Thipphavong S, Malkin D, Villani A, Shlien A, Gladdy RA, Kim RH. Ingley KM, et al. Among authors: kim rh. NPJ Genom Med. 2024 Mar 27;9(1):24. doi: 10.1038/s41525-024-00405-z. NPJ Genom Med. 2024. PMID: 38538628 Free PMC article.
A case of urticarial vasculitis associated with atezolizumab.
Young JN, Rivera-Oyola R, Poplausky D, Suemitsu Y, Kim RH, Doroshow D, Gulati N. Young JN, et al. Among authors: kim rh. JAAD Case Rep. 2023 Nov 20;43:30-33. doi: 10.1016/j.jdcr.2023.09.042. eCollection 2024 Jan. JAAD Case Rep. 2023. PMID: 38162407 Free PMC article. No abstract available.
501 results