SARAH ELSEA to Genetic Testing
This is a "connection" page, showing publications SARAH ELSEA has written about Genetic Testing.
Connection Strength
0.582
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Genetic diagnosis of Down syndrome in an underserved community. Am J Med Genet A. 2018 02; 176(2):483-486.
Score: 0.348
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Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genet Med. 2025 Jul; 27(7):101443.
Score: 0.145
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Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family. Mol Genet Genomic Med. 2020 08; 8(8):e1318.
Score: 0.026
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Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 05; 179(5):803-807.
Score: 0.024
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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clin Genet. 2019 04; 95(4):462-478.
Score: 0.024
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Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method. Dis Markers. 2013; 35(6):589-94.
Score: 0.016