List of works - Farzad Hashemi-Gorji

A mutational and expressional analysis of DNMT3A in acute myeloid leukemia cytogenetic subgroups

scientific article published on 16 January 2015

A new approach for molecular diagnosis of TAR syndrome

scientific article

A novel SRD5A2 mutation in an Iranian family with sex development disorder

scientific article published on 25 October 2020

A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.

scientific article

A novel mutation in the transactivation-regulating domain of the androgen receptor in a patient with azoospermia.

scientific article

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

scientific article published on 16 May 2016

Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene

scientific article published on 28 June 2023

Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome

scientific article published on January 2017

Association of the Risk of Dental Caries and Polymorphism of MBL2 rs11003125 Gene in Iranian Adults

scientific article published on 14 June 2018

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort

scientific article published on 15 April 2024

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review

scientific article published on 13 February 2024

Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.

scientific article

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

scientific article published on 12 January 2024

Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review

scientific article published in September 2024

First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

scientific article published on January 2016

Gene expression profiling of the 8q22-24 position in human breast cancer: TSPYL5, MTDH, ATAD2 and CCNE2 genes are implicated in oncogenesis, while WISP1 and EXT1 genes may predict a risk of metastasis

scientific article published on 30 September 2016

Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

scientific article published on 23 July 2017

Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability

scientific article published on 31 January 2022

Identification of novel mutations in and genes in families exhibiting thiamine metabolism dysfunction syndrome

scientific article published on 30 March 2024

Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.

scientific article

Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review

scientific article published in 2024

Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI

scientific article published on 30 June 2016

Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA

scientific article published on 11 August 2015

Novel mutation in the gene for intellectual disability: A case report and literature review

article

List of works by Farzad Hashemi-Gorji

A mutational and expressional analysis of DNMT3A in acute myeloid leukemia cytogenetic subgroups

A new approach for molecular diagnosis of TAR syndrome

A novel SRD5A2 mutation in an Iranian family with sex development disorder

A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.

A novel mutation in the transactivation-regulating domain of the androgen receptor in a patient with azoospermia.

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene

Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome

Association of the Risk of Dental Caries and Polymorphism of MBL2 rs11003125 Gene in Iranian Adults

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review

Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review

First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

Gene expression profiling of the 8q22-24 position in human breast cancer: TSPYL5, MTDH, ATAD2 and CCNE2 genes are implicated in oncogenesis, while WISP1 and EXT1 genes may predict a risk of metastasis

Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability

Identification of novel mutations in and genes in families exhibiting thiamine metabolism dysfunction syndrome

Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.

Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review

Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI

Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA

Novel mutation in the gene for intellectual disability: A case report and literature review