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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: iyer k. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Beyond the Stroke: A Case Report of Multiple Sclerosis.
Karri AN, Khalid A, Iyer KV. Karri AN, et al. Among authors: iyer kv. Cureus. 2024 Nov 18;16(11):e73962. doi: 10.7759/cureus.73962. eCollection 2024 Nov. Cureus. 2024. PMID: 39703256 Free PMC article.
Assessing the feasibility of handheld scanning technologies in neonatal intensive care: Trueness, acceptability, and suitability for personalised medical devices.
August D, Byram I, Forrestal D, Desselle M, Stevenson N, Iyer K, Davies MW, White K, Cobbald L, Chapple L, McGrory K, McLean M, Hall S, Schoenmaker B, Clement J, Lai MM. August D, et al. Among authors: iyer k. Aust Crit Care. 2024 Dec 10:101127. doi: 10.1016/j.aucc.2024.09.012. Online ahead of print. Aust Crit Care. 2024. PMID: 39665965
Formation of a low-mass galaxy from star clusters in a 600-million-year-old Universe.
Mowla L, Iyer K, Asada Y, Desprez G, Tan VYY, Martis N, Sarrouh G, Strait V, Abraham R, Bradač M, Brammer G, Muzzin A, Pacifici C, Ravindranath S, Sawicki M, Willott C, Estrada-Carpenter V, Jahan N, Noirot G, Matharu J, Rihtaršič G, Zabl J. Mowla L, et al. Among authors: iyer k. Nature. 2024 Dec;636(8042):332-336. doi: 10.1038/s41586-024-08293-0. Epub 2024 Dec 11. Nature. 2024. PMID: 39663487 Free PMC article.
739 results