M.Amin Tabatabaiefar
Isfahan University of Medical Sciences
H-index: 22
Asia-Iran
Top articles of M.Amin Tabatabaiefar
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability | Laboratory Medicine | Atefeh Mir Yongjun Song Hane Lee Zakiye Nadeali Fahimeh Akbarian | 2024/3/1 |
Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review | Sajjad Biglari Atefeh Sohanforooshan Moghaddam Mohammad Amin Tabatabaiefar Roya Sherkat Leila Youssefian | 2024/2/1 | |
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems | Molecular Genetics & Genomic Medicine | Atefeh Mir Yongjun Song Hane Lee Zakiye Nadeali Mohammad Amin Tabatabaiefar | 2024/1 |
The Introduction of Basic Fibroblast Growth Factor Promotes Quadriceps Muscle Regeneration after Damage in Mice | Journal of Sciences, Islamic Republic of Iran | Atefeh Mir M Amin Tabatabaiefar Seyedeh Sedigheh Baakhlagh Hoora Jalali Tehrani Mahdi Zamani | 2023/6/1 |
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom | Annals of Human Genetics | Atefeh Mir Erfan Khorram Yongjun Song Hane Lee Mohammad Amin Tabatabaiefar | 2023/11 |
Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation | PLoS One | Zahra Ataei Zahra Nouri Farial Tavakoli Mohammad Reza Pourreza Sina Narrei | 2023/2/27 |
Qualitative and Quantitative Optimization of FOXE1 Gene Polymerase Chain Reaction Product as a GC-Rich Gene | Journal of Isfahan Medical School | Zohreh Mohammadi Zaniani Mehrdad Zeinalian Mohammad Amin Tabatabaiefar | 2023/12/22 |
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features … | Atefeh Mir Yongjun Song Hane Lee Hossein Khanahmad Erfan Khorram | 2023/10/11 | |
New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development | Molecular Genetics and Genomics | Shahrzad Aghaei Effat Farrokhi Javad Saffari-Chaleshtori Marziyeh Hoseinzadeh Newsha Molavi | 2023/5 |
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical … | Atefeh Mir Yongjun Song Hane Lee Mostafa Montazer‐Zohouri Marziyeh Reisi | 2023/12 | |
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature … | Fatemeh Shakarami Zahra Nouri Hossein Khanahmad Mohamadreza Ghazavi Mohammad Amin Tabatabaiefar | 2023/9/8 | |
Four families with X-linked intellectual disability affected males: Novel deleterious variants and clinical features with the review of literature | Atefeh Mir Yongjun Song Hane Lee Hossein Khanahmad Erfan Khorram | 2023/4/25 | |
Familial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series | Zohreh Mohammadi Zaniani Mehrdad Zeinalian Mohammad Amin Tabatabaiefar | 2023/11/25 | |
Lynch-like Syndrome and its Molecular Approaches: A Brief Report and Literature Review | Zeinab Abdollahi Mohammad Amin Tabatabaiefar Mohammad Hassan Emami Mehrdad Zeinalian | 2023/4/1 | |
Two distinct deleterious causative variants in a family with multiple cancer-affected patients | Advanced Biomedical Research | Erfan Khorram Mohammad A Tabatabaiefar Mehrdad Zeinalian | 2023/7/1 |
Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation … | Journal of Biomolecular Structure and Dynamics | Shahrzad Aghaei Sepideh Parvizpour Effat Farrokhi Newsha Molavi Marziyeh Hoseinzadeh | 2023/11/24 |
A Novel Homozygous Pathogenic Variant in CYP11B1 in a Female Iranian Patient with 11B Hydroxylase Deficiency | Laboratory Medicine | Marziyeh Hoseinzadeh Newsha Molavi Mahnaz Norouzi Shahrzad Aghaei Mehrdad Zeinalian | 2023/7/1 |
Griscelli syndrome type 1: a novel pathogenic variant, and review of literature | Erfan Khorram Mohammad Amin Tabatabaiefar Omid Yaghini Mehdi Khorrami Vida Yazdani | 2023/3 | |
A Homozygous Nonsense Variant in UVSSA Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran | Advanced Biomedical Research | Azam Ahmadi Shadmehri Fahimeh Akbarian Azadeh Rahimi Mohammad Reza Pourreza Mohammad Amin Tabatabaiefar | 2023/11/1 |
Next-generation sequencing reveals a novel pathogenic variant in the ATM gene | International Journal of Neuroscience | Azam Pourahmadiyan Paria Alipour Neda Golchin Mohammad Amin Tabatabaiefar | 2022/6/3 |
