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Gholam Reza Shariati

Catholic University of the Sacred Heart

3

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24

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Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy

2018 Molecular Syndromology
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Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

2018 Neurology
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A Novel CAT > GAT (H 3311R) Missense Mutation in Exon 30 of the PKD1 Gene in a Patient Affected With Autosomal Dominant Polycystic Kidney

2015 Zahedan Journal of Research in Medical Sciences
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