Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Farshid Parvini

6PUBLICATIONS
3CO-AUTHORS
Inorganic green chemistryMedical mycologyNeonatologyDevelopmental genetics (incl. sex determination)Neurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

Sort by Publication Date:
|Nov 19, 2025
First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.

Farshid Parvini, Mobarakeh Ajam-Hosseini, Marziyeh Shadpour

|Sep 03, 2025
Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.

Pegah Beheshti, Fahimeh Akbarian, Emran Esmaeilzadeh

|Sep 01, 2025
Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.

Mohammad Ali Farazi Fard, Zahra Tabatabaei, Mobarakeh Ajam-Hosseini

|Feb 24, 2023
A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Mobarakeh Ajam-Hosseini, Farshid Parvini, Abdolhamid Angaji

|Feb 03, 2021
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.

Hossein Fahimi, Samira Behroozi, Sadaf Noavar

|Sep 18, 2020
A Homozygous Truncating Mutation in <i>NALCN</i> Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.

Amir Hossein Karimi, Mohammad Reza Karimi, Poopak Farnia

Pageof 1

Frequent Collaborators

1 joint publications

Niloofar Chamanrou

1 joint publications

Ipek Polat

1 joint publications

Reza Maroofian

Frequent Collaborators

1 joint publications

Niloofar Chamanrou

1 joint publications

Ipek Polat

1 joint publications

Reza Maroofian

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

34.5K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

3.7K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

8.7K
See more related videos

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

34.5K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

3.7K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

8.7K
See more related videos