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A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.
Eur J Med Genet. 2020 Sep;63(9):103969. doi: 10.1016/j.ejmg.2020.103969. Epub 2020 Jun 10.
Eur J Med Genet. 2020.
PMID: 32534219
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM.
Mendelsohn BA, et al. Among authors: beleford dt.
Am J Med Genet A. 2020 Mar;182(3):513-520. doi: 10.1002/ajmg.a.61450. Epub 2019 Dec 27.
Am J Med Genet A. 2020.
PMID: 31880405
Free PMC article.
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Schimke immunoosseous dysplasia and management considerations for vascular risks.
Beleford DT, Diab M, Qubty WF, Malloy MJ, Long RK, Shieh JT.
Beleford DT, et al.
Am J Med Genet A. 2019 Jul;179(7):1246-1252. doi: 10.1002/ajmg.a.61148. Epub 2019 Apr 30.
Am J Med Genet A. 2019.
PMID: 31039288
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Cleavage of PGRP-LC receptor in the Drosophila IMD pathway in response to live bacterial infection in S2 cells.
Schmidt RL, Rinaldo FM, Hesse SE, Hamada M, Ortiz Z, Beleford DT, Page-McCaw A, Platt JL, Tang AH.
Schmidt RL, et al. Among authors: beleford dt.
Self Nonself. 2011 Jul;2(3):125-141. doi: 10.4161/self.17882. Epub 2011 Jul 1.
Self Nonself. 2011.
PMID: 22496930
Free PMC article.
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