Repository of Research and Investigative Information

Repository of Research and Investigative Information

Shahid Sadoughi University of Medical Sciences

Items where Author is "Hozhabri, H."

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Number of items: 4.

Article

(2022) Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families. Journal of Clinical Laboratory Analysis.

(2020) Martsolf syndrome with novel mutation in the <i>TBC1D20</i> gene in a family from Iran. American Journal of Medical Genetics Part A. pp. 957-961. ISSN 1552-4825

(2020) A Novel <i>PCNT</i> Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II). Frontiers in Pediatrics. p. 7. ISSN 2296-2360

(2019) A Novel Missense Mutation in the CPS1 Gene Causes arbamoyl phosphate synthetase 1 deficiency identified by next generation sequencing. European Journal of Human Genetics. pp. 1814-1815. ISSN 1018-4813

This list was generated on Mon Feb 10 16:43:11 2025 +0330.