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:: View This Issue in Alternative Language Export Journal XML Articles RSS Volume 14, Number 1 (Vol. 14, No. 1 Supplement Issue 2016) ::
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XML Improved Diagnostic Yield of Neuromuscular Disorders Applying Clinical Exome Sequencing (CES) in Patients Arising from a Consanguineous Population P. 8-8
Zahra, Kalhor , Zohreh Fattahi, Mahsa Fadaee, Raheleh Vazehan, Elham Parsimehr
Abstract (463 Views)   |   Full-Text (PDF) (265 Downloads)  
XML Targeted Next-Generation Sequencing Revealed Novel Mutations in Iranian Ataxic Patients P. 9-9
Fatemeh Ahangari , Zohreh Fattahi, Mahsa Fadaee, Raheleh Vazehan, Ayda Abolhassani, Elham Parsimehr, Maryam Beheshtian, Mohammad Reza Akbari, Ariana Kariminejad, Hossein Najmabadi
Abstract (467 Views)   |   Full-Text (PDF) (248 Downloads)  
XML First Report of Two Novel Mutations in Alpha Sarcoglycan Gene in Two Iranian Families with LGMD P. 10-10
Marzieh Mojbafan , Seyed Hasan Tonekaboni, Yalda Nilipour, Javad Tavakkoly-Bazzaz, Sirous Zeinali
Abstract (457 Views)   |   Full-Text (PDF) (311 Downloads)  
XML Clinical Trials and Biomarkers in CMT P. 12-12
Attarian Shahram
Abstract (449 Views)   |   Full-Text (PDF) (247 Downloads)  
XML Molecular Diagnosis of Limb Girdle Muscular Dystrophies P. 13-13
Sirous Zeinali , Marziyeh Mojbafan, Hamideh Bagherian, Elham Davoodi
Abstract (510 Views)   |   Full-Text (PDF) (332 Downloads)  
XML Congenital Muscular Dystrophy : An Overview P. 14-14
Seyed Hassan Tonekaboni
Abstract (468 Views)   |   Full-Text (PDF) (250 Downloads)  
XML Hereditary Motor Sensory Neuropathies (HMSN): Current Trends and Future Implications for Diagnosis and Management. P. 15-15
Ehsan Ghayoor Karimiani
Abstract (506 Views)   |   Full-Text (PDF) (253 Downloads)  
XML Diagnostic Laboratory Challenges About Charcot-Marie-Tooth Disease P. 16-16
Raheleh Vazehan , Zohreh Fattahi, Mahsa Fadaee, Elham Parsimehr, Mehrshid Faraji, Mona Montajebiniat, Maryam Beheshtian, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Abstract (408 Views)   |   Full-Text (PDF) (296 Downloads)  
XML Farber Disease in Iran P. 17-17
yousef Shafeghati , A. R. Tavassoli, F Hadipour, Z. Hadipour
Abstract (605 Views)   |   Full-Text (PDF) (273 Downloads)  
XML New NPC Suspicion Index : P. 18-18
Mahmoud reza Ashrfi , Tavasoli Alireza
Abstract (552 Views)   |   Full-Text (PDF) (254 Downloads)  
XML Association Between Twenty Five Gens with Stroke Subtypes in a Persian Population, a Database Structure P. 19-19
Ariane Sadr-Nabavi
Abstract (603 Views)   |   Full-Text (PDF) (300 Downloads)  
XML Study the Effect of SemililTM on Expression of Daxx, Nfkb and Vegf Genes in the Streptozotocin-Rat Model of Sporadic Alzheimer's Disease P. 20-20
Niloofar Bazazzadegan , Marzieh Dehghan Shasaltaneh, Kioomars Saliminejad, Parvaneh Daneshmand, Koorosh Kamali, Mehdi Banan, Hamid Reza Khorram Khorshid Hamid Reza Khorram Khorshid
Abstract (540 Views)   |   Full-Text (PDF) (358 Downloads)  
XML Neuroprotective Effects of Herbal Extract (R. Canina, T. Vulgare and U. Dioica) on Rat Model of Sporadic Alzheimer’s Disease P. 22-22
Parvaneh Daneshmand , Kioomars Saliminejad, Marzieh Dehghan Shasaltaneh, Koorosh Kamali, Gholam Hossein Riazi, Reza Nazari, Pedram Azimzadeh, Hamid Reza Khorram Khorshid
Abstract (474 Views)   |   Full-Text (PDF) (249 Downloads)  
XML Gene Expression Alteration in Suicide Victims with Psychosis P. 23-23
Arvin Haghighatfard , Atieh Alizadenik, Elham Rastegarimoghaddam, Noshin Nejati
Abstract (620 Views)   |   Full-Text (PDF) (268 Downloads)  
XML Down Expression of NRG1 Types I, II and III in Iranian Schizophrenic Patients P. 24-24
Zahrasadat Hosseini , Mohammad Tahmaseb, Masoud Houshmand, Sahel Hemmati, Arvin Haghighatfard
Abstract (459 Views)   |   Full-Text (PDF) (288 Downloads)  
XML Peroxisome Disorders and Peroxisome Proliferator Activated Receptors: A Rreview Study to Update Molecular Aspects of PEX Genes P. 25-25
Kamran Ghaedi , Yousef Shafeghati, Mohammad Hossein Nasr Esfahani
Abstract (451 Views)   |   Full-Text (PDF) (322 Downloads)  
XML Copy Number Variation (CNV) Analysis in Iranian Patients with Sporadic Autism Using Cytogenetic, MLPA, and Array-CGH Techniques P. 26-26
Saghar Ghasemi Firouzabadi , Roshanak Vameghi, Roxana kariminejad, Peyman Jamali, Mahboubeh Firouzkouhi Moghaddam, Hossein Dehghani, Hossein Najmabadi, Farkhondeh Behjati
Abstract (596 Views)   |   Full-Text (PDF) (261 Downloads)  
XML Detection of Microdeletions by FISH Fluorescent in Situ Hybridization: Report of 245 Cases P. 27-27
Soheila Gholami , Hediyeh Refghi, Maassoomeh Abolfathi, Nassrin Zerang, Mona Tayebbi, Azadeh Moshtagh, Roxana Kariminejad
Abstract (411 Views)   |   Full-Text (PDF) (252 Downloads)  
XML Fifteen Years Investigation to Elucidate the Genetic Heterogeneity of Hearing Loss in Iranian Population P. 30-30
Hossein Najmabadi , Mojgan Babanejad, Maryam Beheshtian, Fariba Ardalani, Hossein Daghagh, Nooshin Nikzat, Sanaz, Arzhangi, Khadijeh Jalavand, Kimia Kahrizi
Abstract (558 Views)   |   Full-Text (PDF) (285 Downloads)  
XML Identification of Genes and Mutations in 10 Iranian Families with NSARHL by Whole Exome Sequencing P. 31-31
Mojgan Babanejad , Mohammad Reza Akbari, Nooshin Nikzat1, Sanaz Arzhangi, Hossein Najmabadi, Kimia Kahrizi
Abstract (467 Views)   |   Full-Text (PDF) (244 Downloads)  
XML Neurological Findings in Cutis Laxa Syndromes; Identification of A New Cutis Laxa Gene P. 33-33
Ariana Karimineja , Eva Morava, Thatjana Gardeitchik, Bruno Reversade, Siavash Ghaderi-Soh, Tim Van Damme, Fransiska Malfait
Abstract (460 Views)   |   Full-Text (PDF) (245 Downloads)  
XML ERLIN2 Mutations in Two Iranian Families with Hereditary Spastic Paraplegia P. 35-35
Parva Namiranian , Mehrvash Shams, Joseph Gleeson, Hossein Najmabadi, Ariana Kariminejad
Abstract (487 Views)   |   Full-Text (PDF) (241 Downloads)  
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