Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Pouria Mohammadi"'
Autor:
Seyyed Mohammad Kahani, Ali Rabbizadeh Saray, Mir Salar Kahaei, Ali Dehghani, Pouria Mohammadi, Masoud Garshasbi
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Background Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease. Symptoms include skin and ha
Externí odkaz:
https://doaj.org/article/41e03dc6fff14af98a32c56322293656
Autor:
Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran, Mohammad Rohani, Narges Khanbanha, Sedigheh Nikbakht, Mojtaba Movahedinia, Parviz Karimi, Homa Ghabeli, Seyed Ahmad Hosseini, Fatemeh Sadat Rashidi, Masoud Garshasbi, Morteza Rezvani Kashani, Noor M. Ghiasvand, Stephan Zuchner, Matthis Synofzik, Mahmoud Reza Ashrafi
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-18 (2024)
Abstract Background To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children’s Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year
Externí odkaz:
https://doaj.org/article/73901f9896264335a878fdd5b263980b
Autor:
Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-18 (2023)
Abstract Background Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-p
Externí odkaz:
https://doaj.org/article/33b08d5b1a9846ac9b6a4cfa26acdbbd
Autor:
Mohammad Farid Mohammadi, Sahand Tehrani Fateh, Hadi Aghajani, Afshin Bahramy, Seyed Mohammad Salar Zaheryani, Javad Behroozi, Seyyed Mohammad Kahani, Pouria Mohammadi, Masoud Garshasbi
Publikováno v:
Clinical Case Reports, Vol 11, Iss 10, Pp n/a-n/a (2023)
Key Clinical Message Congenital myasthenic syndromes‐5 (CMS5) is a rare autosomal recessive heterogeneous disorder, caused by pathogenic variants in the COLQ that lead to skeletal muscle weakness and abnormal fatigability. The onset is usually from
Externí odkaz:
https://doaj.org/article/df4b91691d194b778f63d76417dd44d8
Autor:
Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems. Disease‐causing variants in the gigaxonin gene (GAN) cause autosomal recessive gian
Externí odkaz:
https://doaj.org/article/1a582d12e3c2419fa5e52d2b3a69a7bc
The Role of Energy Intensity in the Asymmetric Impact of GDP on Energy Consumption in OPEC Countries
Autor:
Somayeh Azami, Pouria Mohammadi
Publikováno v:
Pizhūhishnāmah-i Iqtiṣād-i Inirzhī-i Īrān, Vol 11, Iss 41, Pp 33-60 (2021)
GDP is one of the factors affecting energy consumption and climate change. This study examines the impact of GDP on energy consumption in OPEC countries in two stages. In the first stage, based on the panel causality test, the causal relationship bet
Externí odkaz:
https://doaj.org/article/56299c668bad45c9a44ec54ddf61a9a8
Autor:
Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/1a7e2a9cd0cb490ba3fb6216410a703b
Publikováno v:
AIMS Energy, Vol 9, Iss 3, Pp 558-580 (2021)
The continuous increase of energy consumption resulted in the unavoidable increase in demand for renewable energy (RE) investment projects in recent years. Although the necessity of developing alternative energy sources is clear, the government canno
Externí odkaz:
https://doaj.org/article/7ec8f1d3391e41149b2141522aeb1d38
Autor:
Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growt
Externí odkaz:
https://doaj.org/article/b254f6852b004605bdd1d7c988df9aa8
Publikováno v:
Engineering Analysis with Boundary Elements. 148:366-375
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98605c61c58189ad7c1000affca43230
https://doi.org/10.1016/j.enganabound.2023.01.007
https://doi.org/10.1016/j.enganabound.2023.01.007