Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants
Souter, Vivienne; et al. J Genet Couns. 2025
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Souter, Vivienne; et al. J Genet Couns. 2025
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Walker, J et al. J Genet Couns. 2025
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The clinical utility of carrier screening from preconception and pregnancy to after birth. How screening can change the trajectory of a baby’s health outcomes for conditions with treatments such as ge
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Overview of new Horizon panels and Natera's tools to streamline carrier screening workflow
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Overview of new Horizon panels and Natera's tools to streamline carrier screening workflow
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Schmidt JL, Pizzino A, Nicholl J et al. American Journal of Medical Genetics Part A
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Putra M, Idler J, Patek K, et al. The Journal of Maternal-Fetal and Neonatal Medicine
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Gall BJ, Smart TB, Munch R, et al. Molecular Genetics and Genomic Medicine
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Souter, V., Prigmore, B., Becraft, E., et al. Obstetrics and Gynecology 2023 Aug 10
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