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Zahra Tabatabaei
Observed name:
Tabatabaei, Zahra
Institution:
Shiraz University of Medical Sciences
Observed institutions:
Shiraz University of Medical Sciences,
Faghihi Hospital
OpenAlex ID:
A5072545279
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
2019
·
Mohammad Ali Farazi Fard
, Adriana P. Rebelo
, et al.
·
The American Journal of Human Genetics
·
62
PDF
Expanding the molecular and clinical phenotypes of FUT8‐CDG
2020
·
Bobby G. Ng
, Hassan Dastsooz
, et al.
·
Journal of Inherited Metabolic Disease
·
33
PDF
Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
2020
·
Parham Habibzadeh
, Zahra Tabatabaei
, et al.
·
Frontiers in Genetics
·
14
PDF
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
2019
·
Mohammad Ali Farazi Fard
, Adriana P. Rebelo
, et al.
·
The American Journal of Human Genetics
·
11
PDF
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
2021
·
Daniel L. Polla
, Mohammad Ali Farazi Fard
, et al.
·
Genetics in Medicine
·
9
A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report
2018
·
Hossein Esmaeilzadeh
, Mohammad Reza Bordbar
, et al.
·
BMC Medical Genetics
·
8
PDF
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene
2020
·
Parham Habibzadeh
, Zahra Tabatabaei
, et al.
·
BMC Medical Genetics
·
7
PDF
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
2019
·
Zahra Tabatabaei
, Mohammad Ali Farazi Fard
, et al.
·
European Journal of Medical Genetics
·
6
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
2025
·
Mohammad Ali Farazi Fard
, Zahra Tabatabaei
, et al.
·
Journal of Human Genetics
·
1
Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report
2023
·
Pooneh Nikuei
, Zahra Khashavy
, et al.
·
International Journal of Reproductive BioMedicine (IJRM)
·
1
PDF
Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene.
2021
·
Zahra Tabatabaei
, K Hadijeh Karbalaie
, et al.
·
PubMed
·
1
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Works count:
12
Citation count:
153
H-index:
7
I10-index:
4
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