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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005.
Am J Hum Genet. 2023.
PMID: 37541189
Free PMC article.
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.
Wangler MF, Lesko B, Dahal R, Jangam S, Bhadane P, Wilson TE, McPheron M, Miller MJ.
Wangler MF, et al. Among authors: mcpheron m.
Mol Genet Metab. 2023 Nov;140(3):107680. doi: 10.1016/j.ymgme.2023.107680. Epub 2023 Aug 7.
Mol Genet Metab. 2023.
PMID: 37567036
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Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.
Sundstrom R, Wetherill L, Sapp K, McPheron M, Lah M.
Sundstrom R, et al. Among authors: mcpheron m.
J Community Genet. 2023 Dec;14(6):627-638. doi: 10.1007/s12687-023-00667-7. Epub 2023 Oct 6.
J Community Genet. 2023.
PMID: 37798460
Free PMC article.
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Palynziq clinic: One year and 43 patients later.
Lah M, McPheron M.
Lah M, et al. Among authors: mcpheron m.
Mol Genet Metab. 2021 Jul;133(3):250-256. doi: 10.1016/j.ymgme.2021.05.006. Epub 2021 May 19.
Mol Genet Metab. 2021.
PMID: 34074593
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Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency.
McPheron M, Lah M.
McPheron M, et al.
JIMD Rep. 2019;45:83-87. doi: 10.1007/8904_2018_145. Epub 2018 Nov 8.
JIMD Rep. 2019.
PMID: 30406504
Free PMC article.
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Calibration and Testing of Small High-Resolution Transition Edge Sensor Microcalorimeters with Optical Photons.
Jaeckel FT, Ambarish CV, Dai H, Liu S, McCammon D, McPheron M, Nelms KL, Roy A, Stueber HR, Bandler SR, Chervenak JA, Sakai K, Smith SJ.
Jaeckel FT, et al. Among authors: mcpheron m.
IEEE Trans Appl Supercond. 2021 Jan 21;1:1. doi: 10.1109/tasc.2021.3053506.
IEEE Trans Appl Supercond. 2021.
PMID: 33531792
Free PMC article.
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Genetic Testing and Counseling in Metabolic Liver Disease: An Interactive Lecture for Medical Students.
McPheron MA, Craven HJ, Molleston JP, Dilly CK.
McPheron MA, et al.
MedEdPORTAL. 2020 Oct 19;16:10996. doi: 10.15766/mep_2374-8265.10996.
MedEdPORTAL. 2020.
PMID: 33117886
Free PMC article.
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Energy calibration of high-resolution X-Ray TES microcalorimeters with 3 eV optical photons.
Jaeckel FT, Ambarish CV, Christensen N, Gruenke R, Hu L, McCammon D, McPheron M, Meyer M, Nelms KL, Roy A, Wulf D, Zhang S, Zhou Y, Adams JS, Bandler SR, Chervenak JA, Datesman AM, Eckart ME, Ewin AJ, Finkbeiner FM, Kelley R, Kilbourne CA, Miniussi AR, Porter FS, Sadleir JE, Sakai K, Smith SJ, Wakeham N, Wassell E, Yoon W, Morgan KM, Schmidt DR, Swetz DS, Ullom JN.
Jaeckel FT, et al. Among authors: mcpheron m.
IEEE Trans Appl Supercond. 2019 Aug;29(5):2100104. doi: 10.1109/TASC.2019.2899856. Epub 2019 Feb 18.
IEEE Trans Appl Supercond. 2019.
PMID: 31186605
Free PMC article.
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