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Fatemeh Peymani
Fatemeh Peymani
PhD, TUM
在 tum.de 的电子邮件经过验证
标题
引用次数
引用次数
年份
RNA sequencing role and application in clinical diagnostic
F Peymani, A Farzeen, H Prokisch
Pediatric Investigation 6 (01), 29-35, 2022
162022
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes
D Smirnov, LD Schlieben, F Peymani, R Berutti, H Prokisch
Human Mutation 43 (8), 1056-1070, 2022
132022
Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients
K InanlooRahatloo, F Peymani, K Kahrizi, H Najmabadi
Neuroscience 404, 423-444, 2019
52019
Novel mutation in LARP7 in two Iranian consanguineous families with syndromic intellectual disability and facial dysmorphism
G Kazemi, F Peymani, M Mohseni, FZ Ashrafi, S Arzhangi, F Ardalani, ...
Archives of Iranian Medicine 23 (12), 842-847, 2020
32020
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
A Abolhassani, Z Fattahi, M Beheshtian, M Fadaee, R Vazehan, ...
NPJ Genomic Medicine 9 (1), 12, 2024
12024
P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders
A Abolhassani, Z Fattahi, M Beheshtian, M Fadaee, R Vazehan, ...
Genetics in Medicine Open 2, 2024
2024
Guideline for interpretation of proteomics data as functional evidence (PS3) in the context of the ACMG/AMP sequence variant interpretation framework
F Peymani, D Smirnov, R Kopajtich, R Berutti, C Ludwig, C Neuhofer, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 63-63, 2024
2024
Novel variants identified in the rare undiagnosed families
FZ Ashrafi, F Peymani, M Mohseni, S Arzhangi, MR Akbari, H Najmabadi, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 297-297, 2022
2022
Identification the role of TUB in Intellectual Disability using RNA-seq
F Peymani, K InanlooRahtloo
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 344-344, 2020
2020
The benefits of whole exome sequencing data reanalysis in Intellectual disability
Z Fattahi, M Babanejad, F Peymani, M Beheshtian, F Larti, K Kahrizi, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1392-1392, 2019
2019
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