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RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B. Le Caignec C, et al. Among authors: nelson k. Am J Hum Genet. 2019 Nov 7;105(5):1040-1047. doi: 10.1016/j.ajhg.2019.09.024. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630789 Free PMC article.
Inherited cause of in utero digital malformations.
Gooch C, Wright C, Nelson K, Robin N. Gooch C, et al. Among authors: nelson k. BMJ Case Rep. 2020 Mar 24;13(3):e232020. doi: 10.1136/bcr-2019-232020. BMJ Case Rep. 2020. PMID: 32209574 Free PMC article.
Documenting the Full Value of Vaccination: A Systematic Review of Value Frameworks.
Riley AG, Voehler D, Mitrovich R, Carias C, Ollendorf DA, Nelson KL, Synnott PG, Eiden AL. Riley AG, et al. Among authors: nelson kl. Value Health. 2024 May 8:S1098-3015(24)02356-8. doi: 10.1016/j.jval.2024.04.022. Online ahead of print. Value Health. 2024. PMID: 38729562 Review. No abstract available.
3,973 results