Search Results - "Kahani, Mohammad"

A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9) by Kahani, Seyyed Mohammad, Saray, Ali Rabbizadeh, Kahaei, Mir Salar, Dehghani, Ali, Mohammadi, Pouria, Garshasbi, Masoud

“…Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe…”
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Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients by Dehnavi, Ali Zare, Bemanalizadeh, Maryam, Kahani, Seyyed Mohammad, Ashrafi, Mahmoud Reza, Rohani, Mohammad, Toosi, Mehran Beiraghi, Heidari, Morteza, Hosseinpour, Sareh, Amini, Behnam, Zokaei, Shaghayegh, Rezaei, Zahra, Aryan, Hajar, Amanat, Man, Vahidnezhad, Hassan, Mohammadi, Pouria, Garshasbi, Masoud, Tavasoli, Ali Reza

“…Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four…”
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Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients by Dehnavi, Ali Zare, Bemanalizadeh, Maryam, Kahani, Seyyed Mohammad, Ashrafi, Mahmoud Reza, Rohani, Mohammad, Toosi, Mehran Beiraghi, Heidari, Morteza, Hosseinpour, Sareh, Amini, Behnam, Zokaei, Shaghayegh, Rezaei, Zahra, Aryan, Hajar, Amanat, Man, Vahidnezhad, Hassan, Mohammadi, Pouria, Garshasbi, Masoud, Tavasoli, Ali Reza

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Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers by Mohammadi, Mohammad Farid, Fateh, Sahand Tehrani, Aghajani, Hadi, Bahramy, Afshin, Zaheryani, Seyed Mohammad Salar, Behroozi, Javad, Kahani, Seyyed Mohammad, Mohammadi, Pouria, Garshasbi, Masoud

“…Congenital myasthenic syndromes-5 (CMS5) is a rare autosomal recessive heterogeneous disorder, caused by pathogenic variants in the that lead to skeletal…”
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Phenotype and Genotype Heterogeneity of PLA2G6-associated Neurodegeneration (S2.009) by Tavasoli, Ali Reza, Dehnavi, Ali Zare, Bemanalizadeh, Maryam, Kahani, Mohammad, Rohani, Mohammad, Toosi, Mehran Beriraghi, Ashrafi, Mahmoud Reza, Heidari, Morteza, Amanat, Man, Hosseinpour, Sareh

“…Abstract only…”
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Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71 by Bazgir, Afsaneh, Agha Gholizadeh, Mehdi, Kahani, Seyyed Mohammad, Tavasoli, Ali Reza, Garshasbi, Masoud

“…Developmental and epileptic encephalopathy (DEEs) (OMIM#618,328) is characterized by seizures, hypotonia, and brain abnormalities, often arising from mutations…”
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The potential impact of Covid-19 on CNS and psychiatric sequels by Dehghani, Ali, Zokaei, Elham, Kahani, Seyyed Mohammad, Alavinejad, Elaheh, Dehghani, Mohammad, Meftahi, Gholam Hossein, Afarinesh, Mohammad Reza

“…Due to its high prevalence and fatality, the current Severe Acute Respiratory Syndrome-coronavirus-2 (SARS-CoV-2) virus, which first emerged in China in 2019,…”
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Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature by Mohammadi, Mohammad Farid, Dehghani, Ali, Zarabadi, Kiana, Kahani, Seyyed Mohammad, Sayyad, Setareh, Ashrafi, Mahmoud Reza, Heidari, Morteza, Mohammadi, Pouria, Garshasbi, Masoud, Tavasoli, Ali Reza

“…Background Aminoacylase-1 deficiency (ACY1D) is an autosomal recessive rare inborn error of metabolism, which is caused by disease-causing variants in the ACY1…”
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A wind farm's reliability and effects of the wind farm on a distribution grid's reliability indices by Kahani, Mohammad Mahdi Mojarrad, Sajjadi, Seyed Mojtaba, Zavareh, Hooman Tafvizi

“…This paper is about the concepts of reliability and reliability indices for different levels of researches in reliability and their effectiveness…”
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