Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Ehsan Jafarinia"'
Autor:
Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)
Abstract Background Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with autosomal recessive nonsyndromic HL (ARNSHL). Herein, we subjected two patients wit
Externí odkaz:
https://doaj.org/article/0a7620fe16fd48c2aa338bf09620e88d
Autor:
Fatemeh Bitarafan, Ehsan Razmara, Mehrnoosh Khodaeian, Mohammad Keramatipour, Alireza Kalhor, Ehsan Jafarinia, Masoud Garshasbi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Marfan syndrome (MFS) is a multi‐systemic autosomal dominant disease of the connective tissue characterized by the early development of thoracic aneurysms/dissections, along with various manifestations of the ocular and skeletal
Externí odkaz:
https://doaj.org/article/d745eb198f4d48e1bd3298d55047c99d
Autor:
Ahmad Soltanzadeh, Mohsen Mahdinia, Ehsan Jafarinia, Hamedeh Golmohammadpour, Mohsen Sadeghi-Yarandi
Publikováno v:
Work. :1-12
BACKGROUND: Construction projects are one of the most critical occupational sectors that experienced many challenges in occupational accidents and safety performance. OBJECTIVE: This study was designed to assess safety risk in construction projects b
Publikováno v:
European journal of clinical investigation.
DNA-directed RNA polymerase II subunit 3 (RPB3) is the third largest subunit of RNA polymerase II and is encoded by the POLR2C (OMIM:180663). A large Iranian family with congenital hearing loss and infertility is described here with genetic and clini
Autor:
Ehsan Jafarinia, Navid Almadani, Fatemeh Bitarafan, Masoud Garshasbi, Mohammad Ali Daneshmand, Shohreh Shafeii, Mehrnoosh Khodaeian
Publikováno v:
Molecular Syndromology. 12:118-126
Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal abnormalities, intellectual disability, and dermatoglyphic malformations. Studies show that mo
Autor:
Ahmad Soltanzadeh, Mohsen Mahdinia, Alireza Omidi Oskouei, Ehsan Jafarinia, Esmaeil Zarei, Mohsen Sadeghi-Yarandi
Publikováno v:
Sustainability; Volume 14; Issue 24; Pages: 16555
Due to their unique nature, construction projects are considered one of the world’s most hazardous and incident-prone industrial sectors. The present study aimed to analyze health, safety and environmental (HSE) risks relating to construction proje
Publikováno v:
ASCE-ASME Journal of Risk and Uncertainty in Engineering Systems, Part A: Civil Engineering. 7
This study follows the fuzzy analytic hierarchy process to develop a semiquantitative technique to assess the safety risk of construction projects based on effective parameters affecting th...
Autor:
Alexander N Harrison, Masoud Garshasbi, Ehsan Jafarinia, Ali Reza Tavasoli, Robert S. Molday, Navid Almadani, Erfan Heidari
Publikováno v:
Human mutationREFERENCES. 42(5)
ATP8A2 is a P4-ATPase that flips phosphatidylserine across membranes to generate and maintain transmembrane phospholipid asymmetry. Loss-of-function variants cause severe neurodegenerative and developmental disorders. We have identified three ATP8A2
Autor:
Ali Hosseini Bereshneh, Ehsan Jafarinia, Ali Reza Tavasoli, Zahra Rezaei, Mahmoud Reza Ashrafi, Masoud Garshasbi, Fatemeh Rajabi
Publikováno v:
Mitochondrion. 59
Deficiency of the proteins involved in oxidative phosphorylation (OXPHOS) can lead to mitochondrial dysfunction. Polyribonucleotide nucleotidyltransferase 1 (PNPT1) is one of the genes involved in the OXPHOS and encodes the mitochondrial polynucleoti
Autor:
Ehsan Razmara, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi, Golareh Asgaritarghi, Safoura Zardadi
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with autosomal recessive nonsyndromic HL (ARNSHL). Herein, we subjected two patients with bilater