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Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.
Shillington A, Zea Vera A, Perry T, Hopkin R, Thomas C, Cooper D, Suhrie K. Shillington A, et al. Among authors: suhrie k. Mol Genet Genomic Med. 2021 Oct;9(10):e1804. doi: 10.1002/mgg3.1804. Epub 2021 Sep 16. Mol Genet Genomic Med. 2021. PMID: 34528764 Free PMC article.
Relationship between a novel learning slope metric and Alzheimer's disease biomarkers.
Hammers DB, Suhrie K, Dixon A, Gradwohl BD, Archibald ZG, King JB, Spencer RJ, Duff K, Hoffman JM. Hammers DB, et al. Among authors: suhrie k. Neuropsychol Dev Cogn B Aging Neuropsychol Cogn. 2021 May 5:1-21. doi: 10.1080/13825585.2021.1919984. Online ahead of print. Neuropsychol Dev Cogn B Aging Neuropsychol Cogn. 2021. PMID: 33952156
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM. Maron JL, et al. Among authors: suhrie k. JAMA Pediatr. 2021 May 1;175(5):e205906. doi: 10.1001/jamapediatrics.2020.5906. Epub 2021 May 3. JAMA Pediatr. 2021. PMID: 33587123 Free PMC article.
29 results