Mohammad Ali Farazi Fard

发表

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

J. Schuurs-Hoeijmakers, S. Antonarakis, R. Płoski, 2021, Genetics in Medicine.

A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

M. Faghihi, M. Bordbar, F. Modarresi, 2017, BMC Medical Genetics.

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

M. Faghihi, M. Fardaei, H. Dastsooz, 2017, Front. Pediatr..

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American journal of human genetics.

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

M. Faghihi, P. Habibzadeh, Z. Anvar, 2020, BMC Medical Genetics.

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

M. Faghihi, P. Habibzadeh, Mohammad Silawi, 2019, BMC Medical Genetics.

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment

M. Faghihi, J. Böhm, P. Habibzadeh, 2019, Front. Neurol..

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American Journal of Human Genetics.

Identification of novel microsatellite markers flanking GJB2 gene in order to use in preimplantation genetic diagnosis of hearing loss: A comparison of whole-genome amplification and semi-nested PCR.

M. Dianatpour, S. B. Hashemi, Zahra Tabatabaei, 2020, European journal of medical genetics.