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Zahra Farbod

Shiraz University of Medical Sciences

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A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.

2021 Human genome variation
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Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.

2021 Annals of Human Genetics
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