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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. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Early life exposure to broccoli sprouts confers stronger protection against enterocolitis development in an immunological mouse model of inflammatory bowel disease.
Holcomb L, Holman JM, Hurd M, Lavoie B, Colucci L, Hunt B, Hunt T, Kinney M, Pathak J, Mawe GM, Moses PL, Perry E, Stratigakis A, Zhang T, Chen G, Ishaq SL, Li Y. Holcomb L, et al. Among authors: holman jm. mSystems. 2023 Dec 21;8(6):e0068823. doi: 10.1128/msystems.00688-23. Epub 2023 Nov 9. mSystems. 2023. PMID: 37942948 Free PMC article.
Paediatric intensive care admissions of preterm children born <32 weeks gestation: a national retrospective cohort study using data linkage.
van Hasselt TJ, Gale C, Battersby C, Davis PJ, Draper E, Seaton SE; United Kingdom Neonatal Collaborative and the Paediatric Critical Care Society Study Group (PCCS-SG). van Hasselt TJ, et al. Arch Dis Child Fetal Neonatal Ed. 2024 Apr 18;109(3):265-271. doi: 10.1136/archdischild-2023-325970. Arch Dis Child Fetal Neonatal Ed. 2024. PMID: 37923384 Free PMC article.
322 results