Rachel Franciskovich

2PUBLICATIONS
5CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neonatology
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Publications (2)

|Aug 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

Russell Stewart, Kimberly M Ezell, Deanna S Bell

|Jul 14, 2020
Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

Rachel Franciskovich, Claudia Soler-Alfonso, Juanita Neira-Fresneda

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Frequent Collaborators

1 joint publications

Kimberly M Ezell

1 joint publications

Deanna S Bell

1 joint publications

Gitanjali Srivastava

1 joint publications

Farah A Ladha