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Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE; DOOFNL Consortium; Pennings RJE, Kremer H. Velde HM, et al. Among authors: lehman a. Hum Genet. 2024 Nov;143(11):1379-1399. doi: 10.1007/s00439-024-02706-w. Epub 2024 Oct 16. Hum Genet. 2024. PMID: 39406892 Free PMC article.
The diagnostic performance of the Visitect Advanced Disease point-of-care CD4 platform: a pragmatic mixed-methods multisite validation, costing, and qualitative analysis.
Nalintya E, Sekar P, Namakula OL, Tadeo KK, Kwizera R, Apeduno L, Naluyima DR, Nanano R, Mujungu L, Lehman A, Adzemovic T, Amperiize M, Kavuma P, Kasone V, Fieberg A, Nerima P, Dai B, Meya DB, Boulware DR, Rajasingham R. Nalintya E, et al. Among authors: lehman a. J Acquir Immune Defic Syndr. 2024 Aug 19. doi: 10.1097/QAI.0000000000003505. Online ahead of print. J Acquir Immune Defic Syndr. 2024. PMID: 39159398
593 results