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Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, Hassett K, Potu S, Rudy N, Smith K, Mikhail FM, Monaghan KG, Hendershot A, Mourmans J, Descartes M, Huentelman MJ, Sills J, Rangasamy S, Narayanan V. Belnap N, et al. Among authors: abraham a. Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25. Clin Genet. 2023. PMID: 37491870
FGF12 copy number variant associated with epileptic encephalopathy.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, Sanchez-Castillo M, Naymik M, Bonfitto A, Rangasamy S, Kruglyak S, Huentelman M, Narayanan V. Abraham A, et al. Clin Genet. 2024 May 8. doi: 10.1111/cge.14542. Online ahead of print. Clin Genet. 2024. PMID: 38715525
Pott's puffy tumor: An unusual complication of rhino-orbito-cerebral mucormycosis.
Abraham AP, Manesh A, Regi S, Michael JS, Kumar RH, Thomas M, Cherian LM, Varghese L, Kurien R, Moorthy RK, Nair BR, Rajshekhar V, Rupa V. Abraham AP, et al. World Neurosurg X. 2024 May 4;23:100387. doi: 10.1016/j.wnsx.2024.100387. eCollection 2024 Jul. World Neurosurg X. 2024. PMID: 38746040 Free PMC article.
Development and validation of a novel Barrett's oesophagus patient reported outcome measure (B-PROM).
Ratcliffe E, Britton J, Baines S, Prasad N, Keld R, Murgatroyd M, Montenegro M, Viloria E, McLaughlin J, Hamdy S, Ang Y; B-PROM Delphi contributors; Methodological advice collaborators. Ratcliffe E, et al. EClinicalMedicine. 2024 May 6;72:102606. doi: 10.1016/j.eclinm.2024.102606. eCollection 2024 Jun. EClinicalMedicine. 2024. PMID: 38745966 Free PMC article.
2,303 results