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BMJ Case Reports|November 6, 2025
<i>ZFHX3</i>-associated neural tube defectDibyendu Dutta, Erfan Aref-Eshghi, Ria Garg
Human Molecular Genetics|July 10, 2020
Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disordersBekim Sadikovic, Michael A Levy, Erfan Aref-Eshghi
International Journal of Molecular Sciences|December 9, 2020
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental DisordersSadegheh Haghshenas, Pratibha Bhai, Erfan Aref-Eshghi, et al.
Epigenomics|March 16, 2019
DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotypeBekim Sadikovic, Erfan Aref-Eshghi, Michael A Levy, et al.
Cancer Genetics|October 28, 2021
The oncogenic roles of NTRK fusions and methods of molecular diagnosisErfan Aref-Eshghi, Fumin Lin, Marilyn M Li, et al.
American Journal of Physiology. Cell Physiology|May 28, 2020
Glucose-induced, duration-dependent genome-wide DNA methylation changes in human endothelial cellsErfan Aref-Eshghi, Saumik Biswas, Charlie Chen, et al.
Human Mutation|September 10, 2022
Long-read sequencing for molecular diagnostics in constitutional genetic disordersLaura K Conlin, Erfan Aref-Eshghi, Deborah A McEldrew, et al.
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