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Orphanet Journal of Rare Diseases
|
January 16, 2020
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, et al.
Journal of Arrhythmia
|
June 29, 2018
Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families
Azam Amirian, Zahra Zafari, Mohammad Dalili, et al.
Blood Cells, Molecules & Diseases
|
October 12, 2023
First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant
Zohreh Shojaei, Maryam Abiri, Fatemeh Zafarghandi Motlagh, et al.
Journal of Neurogenetics
|
June 9, 2016
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping
Marzieh Mojbafan, Yalda Nilipour, Seyed Hasan Tonekaboni, et al.
Genetic Testing and Molecular Biomarkers
|
December 16, 2015
NPM1 Mutation Detection in Acute Myeloid Leukemia: A Method Comparison Study
Aileen Azari-Yam, Samira Dabbagh Bagheri, Javad Tavakkoly-Bazzaz, et al.
Metabolic Brain Disease
|
July 20, 2018
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort
Mehdi Shafaat, Mohammad Reza Alaee, Ali Rahmanifar, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Orphanet Journal of Rare Diseases
|
January 16, 2020
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, et al.
Journal of Arrhythmia
|
June 29, 2018
Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families
Azam Amirian, Zahra Zafari, Mohammad Dalili, et al.
Blood Cells, Molecules & Diseases
|
October 12, 2023
First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant
Zohreh Shojaei, Maryam Abiri, Fatemeh Zafarghandi Motlagh, et al.
Journal of Neurogenetics
|
June 9, 2016
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping
Marzieh Mojbafan, Yalda Nilipour, Seyed Hasan Tonekaboni, et al.
Genetic Testing and Molecular Biomarkers
|
December 16, 2015
NPM1 Mutation Detection in Acute Myeloid Leukemia: A Method Comparison Study
Aileen Azari-Yam, Samira Dabbagh Bagheri, Javad Tavakkoly-Bazzaz, et al.
Metabolic Brain Disease
|
July 20, 2018
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort
Mehdi Shafaat, Mohammad Reza Alaee, Ali Rahmanifar, et al.
Page
of 1