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542 results

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: pugh j. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Muscle fibre size and myonuclear positioning in trained and aged humans.
Battey E, Levy Y, Pollock RD, Pugh JN, Close GL, Kalakoutis M, Lazarus NR, Harridge SDR, Ochala J, Stroud MJ. Battey E, et al. Among authors: pugh jn. Exp Physiol. 2024 Apr;109(4):549-561. doi: 10.1113/EP091567. Epub 2024 Mar 10. Exp Physiol. 2024. PMID: 38461483 Free PMC article.
Exploring the ethics of tuberculosis human challenge models.
Rohrig A, Morrison J, Kleinwaks G, Pugh J, McShane H, Savulescu J. Rohrig A, et al. Among authors: pugh j. J Med Ethics. 2023 Dec 30:jme-2023-109234. doi: 10.1136/jme-2023-109234. Online ahead of print. J Med Ethics. 2023. PMID: 38159935 Free article.
Analytical and clinical validation of PATHWAY Anti-HER-2/neu (4B5) antibody to assess HER2-low status for trastuzumab deruxtecan treatment in breast cancer.
Garrido C, Manoogian M, Ghambire D, Lucas S, Karnoub M, Olson MT, Hicks DG, Tozbikian G, Prat A, Ueno NT, Modi S, Feng W, Pugh J, Hsu C, Tsurutani J, Cameron D, Harbeck N, Fang Q, Khambata-Ford S, Liu X, Inge LJ, Vitazka P. Garrido C, et al. Among authors: pugh j. Virchows Arch. 2023 Oct 20. doi: 10.1007/s00428-023-03671-x. Online ahead of print. Virchows Arch. 2023. PMID: 37857998
542 results