Paria Najarzadeh Torbati

Author

Mashhad University of Medical Sciences ORCID

Also Known As

P. Najarzadeh Torbati, Paria N. Torbati, Paria Najarzadeh Torbati

Publications

227

Citations

H-Index

Concepts

All Affiliations

Mashhad University of Medical Sciences University College London St George's, University of London National Hospital for Neurology and Neurosurgery Islamic Azad University, Mashhad

About

Paria Najarzadeh Torbati is an author at Mashhad University of Medical Sciences specializing in aortic diseases, vascular biology, and immunology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	17
2	Immunology	1	1	17
3	Inflammation	1	1	17
4	Systems Biology	1	1	17
5	Aortic Diseases	1	1	17

Paria Najarzadeh Torbati

Publications

127

Citations

H-Index

Page 1

	Year	Citations
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Genetics in Medicine	2022	27
<scp>PI4K2A</scp> deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth Ferrer, Annals of Clinical and Translational Neurology	2022	23
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 Ilse Van Gucht, Josephina Meester, Jotte Rodrigues Bento, The American Journal of Human Genetics InflammationDisease MechanismAortic DiseasesHuman Importin-β-related DisorderImmunology	2021	17
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism Natalie Keller, Natalia Mendoza-Ferreira, Reza Maroofian, Neuromuscular Disorders	2020	14
Genetic Insights from Consanguineous Cardiomyopathy Families Constance Maurer, Olga Boleti, Paria Najarzadeh Torbati, Genes	2023	12
The clinical and genetic spectrum of autosomal-recessive <i>TOR1A</i>-related disorders Afshin Saffari, Tracy Lau, Homa Tajsharghi, Brain	2023	12
<i>TTC5</i> syndrome: Clinical and molecular spectrum of a severe and recognizable condition Luciana Musante, Flavio Faletra, Kolja Meier, American Journal of Medical Genetics Part A	2022	11
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases Maryam Najafi, Korbinian M. Riedhammer, Abolfazl Rad, Frontiers in Pediatrics	2022	11

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