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Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.
Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R. Harris E, et al. Among authors: mcarthur d. Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4. Neuromuscul Disord. 2017. PMID: 28624464
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. Among authors: mcarthur d. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.
Nanoscale Three-Dimensional Imaging of Integrated Circuits Using a Scanning Electron Microscope and Transition-Edge Sensor Spectrometer.
Nakamura N, Szypryt P, Dagel AL, Alpert BK, Bennett DA, Doriese WB, Durkin M, Fowler JW, Fox DT, Gard JD, Goodner RN, Harris JZ, Hilton GC, Jimenez ES, Kernen BL, Larson KW, Levine ZH, McArthur D, Morgan KM, O'Neil GC, Ortiz NJ, Pappas CG, Reintsema CD, Schmidt DR, Schultz PA, Thompson KR, Ullom JN, Vale L, Vaughan CT, Walker C, Weber JC, Wheeler JW, Swetz DS. Nakamura N, et al. Among authors: mcarthur d. Sensors (Basel). 2024 Apr 30;24(9):2890. doi: 10.3390/s24092890. Sensors (Basel). 2024. PMID: 38732996 Free PMC article.
Health Conditions, Education Services, and Transition Planning for Adolescents With Autism.
Hughes MM, Pas ET, Durkin MS, DaWalt LS, Bilder DA, Bakian AV, Amoakohene E, Shaw KA, Patrick ME, Salinas A, DiRienzo M, Lopez M, Williams S, McArthur D, Hudson A, Ladd-Acosta CM, Schwenk YD, Baroud TM, Robinson Williams A, Washington A, Maenner MJ. Hughes MM, et al. Among authors: mcarthur d. Pediatrics. 2024 Apr 1;153(4):e2023063672. doi: 10.1542/peds.2023-063672. Pediatrics. 2024. PMID: 38501189 Free PMC article.
340 results