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Germline and Somatic Mutations in DNA Methyltransferase 3A (DNMT3A) Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice: Implications for Associated PAH.
Al-Qazazi R, Emon IM, Potus F, Martin AY, Lima PDA, Vlasschaert C, Chen KH, Wu D, Gupta AD, Noordhof C, Jefferson L, McNaughton AJM, Bick AG, Pauciulo MW, Nichols WC, Chung WK, Hassoun PM, Damico RL, Rauh MJ, Archer SL. Al-Qazazi R, et al. Among authors: jefferson l. medRxiv [Preprint]. 2023 Dec 31:2023.12.30.23300391. doi: 10.1101/2023.12.30.23300391. medRxiv. 2023. PMID: 38234783 Free PMC article. Preprint.
Phenotypic Variability in PRKCD: a Review of the Literature.
Jefferson L, Ramanan AV, Jolles S, Bernatoniene J, Mathieu AL, Belot A, Roderick MR. Jefferson L, et al. J Clin Immunol. 2023 Nov;43(8):1692-1705. doi: 10.1007/s10875-023-01579-4. Epub 2023 Oct 5. J Clin Immunol. 2023. PMID: 37794137 Review.
Tailing growth, neonatal jaundice and anaemia.
Jefferson L, Ramanan AV, Cummins M, Roderick M. Jefferson L, et al. Arch Dis Child Educ Pract Ed. 2023 Oct;108(5):377-384. doi: 10.1136/archdischild-2022-324990. Epub 2023 Jun 1. Arch Dis Child Educ Pract Ed. 2023. PMID: 37263765
411 results