RACHEL FRANCISKOVICH to Humans
This is a "connection" page, showing publications RACHEL FRANCISKOVICH has written about Humans.
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Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. Am J Med Genet A. 2020 09; 182(9):2077-2084.
Score: 0.018
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Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism. Am J Med Genet A. 2026 01; 200(1):205-214.
Score: 0.006
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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. Am J Hum Genet. 2025 03 06; 112(3):537-553.
Score: 0.006
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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes. Eur J Hum Genet. 2024 Nov; 32(11):1378-1386.
Score: 0.006
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Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas. Genet Med. 2023 03; 25(3):100350.
Score: 0.005
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DNA methylation episignature in Gabriele-de Vries?syndrome. Genet Med. 2022 04; 24(4):905-914.
Score: 0.005
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Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics. Genet Med. 2021 05; 23(5):950-955.
Score: 0.005
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Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1. Am J Med Genet A. 2021 03; 185(3):916-922.
Score: 0.005
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Challenges in Prenatal Treatment with Dexamethasone. Pediatr Endocrinol Rev. 2018 Sep; 16(1):186-193.
Score: 0.004