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De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J. Douglas G, et al. Among authors: williams l. Am J Med Genet A. 2018 Sep;176(9):1845-1851. doi: 10.1002/ajmg.a.40368. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055086
Familial visceral neuropathy: a defined entity?
Roper EC, Gibson A, McAlindon ME, Williams LH, Cook JA, Kandler RH, Quarrell OW. Roper EC, et al. Among authors: williams lh. Am J Med Genet A. 2005 Sep 1;137A(3):249-54. doi: 10.1002/ajmg.a.30880. Am J Med Genet A. 2005. PMID: 16088914 Review.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG. Lopes Abath Neto O, et al. Among authors: williams l. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
Long COVID Definitions and Models of Care : A Scoping Review.
Chou R, Herman E, Ahmed A, Anderson J, Selph S, Dana T, Williams L, Ivlev I. Chou R, et al. Among authors: williams l. Ann Intern Med. 2024 May 21. doi: 10.7326/M24-0677. Online ahead of print. Ann Intern Med. 2024. PMID: 38768458 Review.
6,624 results