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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: nguyen j. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Preferences of people with chronic kidney disease regarding digital health interventions that promote healthy lifestyle: qualitative systematic review with meta-ethnography.
Trần TB, Ambrens M, Nguyễn J, Coleman E, Gilanyi Y, Letton M, Pandit A, Lock L, Thom JM, Sen S, Lambert K, Arnold R. Trần TB, et al. Among authors: nguyen j. BMJ Open. 2024 May 27;14(5):e082345. doi: 10.1136/bmjopen-2023-082345. BMJ Open. 2024. PMID: 38802278 Free PMC article.
Changes in Foot Width in Minimally Invasive Bunionectomy.
El Masry S, DiGiovanni GM, Boden AL, Palma J, Srikumar S, Nguyen JT, Johnson AH. El Masry S, et al. Among authors: nguyen jt. Foot Ankle Int. 2024 May 26:10711007241251819. doi: 10.1177/10711007241251819. Online ahead of print. Foot Ankle Int. 2024. PMID: 38798112
Early diagnosis of melanoma: a randomized trial assessing the impact of the transmission of photographs taken with a smartphone from the general practitioner to the dermatologist on the time to dermatological consultation.
Bouton C, Schmeltz H, Lévèque C, Gaultier A, Quereux G, Dreno B, Nguyen JM, Rat C. Bouton C, et al. Among authors: nguyen jm. BMC Health Serv Res. 2024 May 24;24(1):660. doi: 10.1186/s12913-024-11106-9. BMC Health Serv Res. 2024. PMID: 38783296 Free PMC article. Clinical Trial.
3,344 results