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Newborn with Lethargy and Hypotonia.
Rowe JA, Vedala K, Thomas C, Mukthapuram S. Rowe JA, et al. Among authors: thomas c. Neoreviews. 2023 Nov 1;24(11):e733-e736. doi: 10.1542/neo.24-11-e733. Neoreviews. 2023. PMID: 37907399 No abstract available.
Clinical Reasoning: A neonate with micrognathia and hypotonia.
Vawter-Lee MM, Seals SS, Thomas CW, Venkatesan C. Vawter-Lee MM, et al. Among authors: thomas cw. Neurology. 2016 Feb 23;86(8):e80-4. doi: 10.1212/WNL.0000000000002397. Neurology. 2016. PMID: 26903494 Free PMC article. No abstract available.
A 2-week-old Infant Presenting with Seizures.
Poisson KE, Thomas CW, Leach JL. Poisson KE, et al. Neoreviews. 2020 Sep;21(9):e631-e635. doi: 10.1542/neo.21-9-e631. Neoreviews. 2020. PMID: 32873659 No abstract available.
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: thomas c. 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.
8,417 results