Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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(2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109.
(2022) Evaluation of the relationship between miR-337-3p and RAP1A gene in endometriosis. Journal of Endometriosis and Pelvic Pain Disorders.
(2022) Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families. Journal of Clinical Laboratory Analysis.
(2021) Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain : a journal of neurology. e30.
(2021) Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family. Ophthalmic Genetics.
(2020) Evaluation of miR-181b and miR-126-5p expression levels in T2DM patients compared to healthy individuals: Relationship with NF-κB gene expression Evaluación de los niveles de expresión de miR-181b y miR-126-5p en pacientes con DMT2 comparados con personas sanas: relación con la expresión del gen NF-κB. Endocrinologia, Diabetes y Nutricion.
(2020) Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene. Ophthalmic Genetics. pp. 90-92.