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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J. Mullegama SV, et al. Among authors: muller e 2nd. Am J Hum Genet. 2024 Apr 4;111(4):778-790. doi: 10.1016/j.ajhg.2024.02.016. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531365
Magnetic graphene derivates for efficient herbicide removal from aqueous solution through adsorption.
da Rosa Salles T, Zancanaro LV, da Silva Bruckmann F, Garcia WJ, de Oliveira AH, Baumann L, Rhoden DSB, Muller EI, Martinez DST, Mortari SR, Rhoden CRB. da Rosa Salles T, et al. Among authors: muller ei. Environ Sci Pollut Res Int. 2024 Apr;31(17):25437-25453. doi: 10.1007/s11356-024-32845-6. Epub 2024 Mar 12. Environ Sci Pollut Res Int. 2024. PMID: 38472573
Independent clinic-based evaluation of point-of-care testing for the screening of Chlamydia trachomatis, Neisseria gonorrhoea and Trichomonas vaginalis in women-at-risk in Australia, Guatemala, Morocco, and South Africa.
Shephard M, Matthews S, Kularatne R, Andrewartha K, Blondeel K, Alvarez C, Camey E, Hançali A, Müller E, Haw A, Oumzil H, Golparian D, Ramirez DE, Kiarie J, Kurbonov F, Mirandola M, Peeling RW, Silva R, Thwin SS, Unemo M, Toskin I. Shephard M, et al. Among authors: muller e. BMC Infect Dis. 2024 Mar 4;24(Suppl 1):277. doi: 10.1186/s12879-024-09018-4. BMC Infect Dis. 2024. PMID: 38438953 Free PMC article.
3,044 results