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Pouria Mohammadi
Pouria Mohammadi
Tarbiat Modares University
Medicine
Genetics
Compound heterozygosity
Sanger sequencing
Postnatal microcephaly
3
Papers
3
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Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.
2021
Molecular Genetics & Genomic Medicine
Pouria Mohammadi
Elham Salehi Siavashani
Mohammad Farid Mohammadi
Afshin Bahramy
Navid Almadani
Masoud Garshasbi
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A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.
2021
Acta Neurologica Belgica
Pouria Mohammadi
Morteza Heidari
Mahmoud Reza Ashrafi
Nejat Mahdieh
Masoud Garshasbi
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Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
2020
Acta Neurologica Belgica
Pouria Mohammadi
Mohammad Ali Daneshmand
Nejat Mahdieh
Mahmoud Reza Ashrafi
Morteza Heidari
Masoud Garshasbi
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