Search Results - Hassan Dastsooz
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1
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports by Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
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2
A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis by Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi
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3
Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report by Fatemeh Maghami, Seyed Mohammad Bagher Tabei, Hossein Moravej, Hassan Dastsooz, Farzaneh Modarresi, Mohammad Silawi, Mohammad Ali Faghihi
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4
A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report by Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad Ali Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat, Nader Shakibazad
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5
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene by Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
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6
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome by Maryam Taghdiri, Maryam Taghdiri, Hassan Dastsooz, Majid Fardaei, Majid Fardaei, Majid Fardaei, Sanaz Mohammadi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi
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7
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series by Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib
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8
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report by Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Seyed Alireza Dastgheib
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9
A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report by Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour, Mohammad Ali Faghihi
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