Effect of inbreeding on intellectual disability revisited by trio sequencing
Kahrizi, Kimia, Hu, Hao, Hosseini, Masoumeh, Kalscheuer, Vera M., Fattahi, Zohreh, Beheshtian, Maryam, Suckow, Vanessa, Mohseni, Marzieh, Lipkowitz, Bettina, Mehvari, Sepideh, Mehrjoo, Zohreh, Akhtarkhavari, Tara, Ghaderi, Zhila, Rahimi, Maryam, Arzhangi, Sanaz, Jamali, Payman, Falahat Chian, Milad, Nikuei, Pooneh, Sabbagh Kermani, Farahnaz, Sadeghinia, Farnaz, Jazayeri, Roshanak, Tonekaboni, S. Hassan, Khoshaeen, Atefeh, Habibi, Haleh, Pourfatemi, Fatemeh, Mojahedi, Faezeh, Khodaie‐Ardakani, Mohammad‐Reza, Najafipour, Reza, Wienker, Thomas F., Najmabadi, Hossein, Ropers, Hans‐Hilger
Published in Clinical genetics (01.01.2019)
Published in Clinical genetics (01.01.2019)
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Journal Article
Risk factors of pediatric arterial ischemic stroke; A regional survey
Ghofrani, Mohammad, Tonekaboni, Hassan, Karimzadeh, Parvaneh, Nasiri, Jafar, Pirzadeh, Zahra, Ghazzavi, Mohamadreza, Yghini, Omid
Published in International journal of preventive medicine (01.01.2018)
Published in International journal of preventive medicine (01.01.2018)
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Journal Article
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations
Abtahi, Rezvan, Karimzadeh, Parvaneh, Aryani, Omid, Akbarzadeh, Diba, Salehpour, Shadab, Rezayi, Alireza, Tonekaboni, Seyed Hassan, Emameh, Reza Zolfaghari, Houshmand, Massoud
Published in Hereditas (27.01.2022)
Published in Hereditas (27.01.2022)
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Journal Article
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
Ghasemi, Mohammad-Reza, Sadeghi, Hossein, Hashemi-Gorji, Farzad, Mirfakhraie, Reza, Gupta, Vijay, Ben-Mahmoud, Afif, Bagheri, Saman, Razjouyan, Katayoon, Salehpour, Shadab, Tonekaboni, Seyed Hassan, Dianatpour, Mehdi, Omrani, Davood, Jang, Mi-Hyeon, Layman, Lawrence C, Miryounesi, Mohammad, Kim, Hyung-Goo
Published in BMC medical genomics (05.08.2024)
Published in BMC medical genomics (05.08.2024)
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Journal Article
A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome
Saghazadeh, Amene, Seyed Hassan Tonekaboni, Najmabadi, Hossein, Rezaei, Nima
Published in Acta medica Iranica (30.10.2018)
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Published in Acta medica Iranica (30.10.2018)
Journal Article
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group
Al Jasmi, Fatma, Al Jumah, Mohammed, Alqarni, Fatimah, Al-Sanna'a, Nouriya, Al-Sharif, Fawziah, Bohlega, Saeed, Cupler, Edward J, Fathalla, Waseem, Hamdan, Mohamed A, Makhseed, Nawal, Nafissi, Shahriar, Nilipour, Yalda, Selim, Laila, Shembesh, Nuri, Sunbul, Rawda, Tonekaboni, Seyed Hassan
Published in BMC neurology (15.10.2015)
Published in BMC neurology (15.10.2015)
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Journal Article
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group
Mojbafan, Marzieh, Tonekaboni, Seyed Hassan, Abiri, Maryam, Kianfar, Soudeh, Sarhadi, Ameneh, Nilipour, Yalda, Tavakkoly-Bazzaz, Javad, Zeinali, Sirous
Published in Journal of molecular neuroscience (01.07.2016)
Published in Journal of molecular neuroscience (01.07.2016)
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Journal Article
Knowledge, attitudes, and practices among mothers of children with epilepsy: A study in a teaching hospital
Kolahi, Ali-Asghar, Abbasi-Kangevari, Mohsen, Bakhshaei, Pouya, Mahvelati-Shamsabadi, Farhad, Tonekaboni, Seyed-Hassan, Farsar, Ahmad-Reza
Published in Epilepsy & behavior (01.04.2017)
Published in Epilepsy & behavior (01.04.2017)
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Journal Article
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
Abtahi, Rezvan, Karimzadeh, Parvaneh, Rezayi, Alireza, Salehpour, Shadab, Akbarzadeh, Diba, Tonekaboni, Seyed Hassan, Emameh, Reza Zolfaghari, Houshmand, Massoud
Published in Journal of molecular neuroscience (01.03.2022)
Published in Journal of molecular neuroscience (01.03.2022)
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Journal Article
Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population
Loghmani Khouzani, Houra, Kariminejad, Ariana, Zamani, Gholamreza, Ghalandary, Maryam, Bozorgmehr, Bita, Amirsalari, Susan, Mojahedi, Faezeh, Tonekaboni, Sayed Hassan, Kariminejad, Roxana, Najmabadi, Hossein
Published in Archives of Iranian medicine (01.07.2014)
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Published in Archives of Iranian medicine (01.07.2014)
Journal Article
Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome
Javadi Parvaneh, Vadood, Ghasemi, Leila, Rahmani, Khosro, Shiari, Reza, Mesdaghi, Mahbobeh, Chavoshzadeh, Zahra, Tonekaboni, Seyed Hassan
Published in Autoimmunity highlights (29.06.2020)
Published in Autoimmunity highlights (29.06.2020)
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Journal Article
Recurrence of Developmental and Epileptic Encephalopathy 9 (DEE9) in Two Siblings Due to Parental Germline Mosaicism of PCDH19 Mutation and Review of the Literature
Alijanpour, Sahar, Ghafouri-Fard, Soudeh, Seyed Hassan Tonekaboni, Karimzadeh, Parvaneh, Ahmadabadi, Farzad, Rahimian, Elham, Panjehshahi, Samareh, Miryounesi, Mohammad
Published in Basic and clinical neuroscience (01.07.2024)
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Published in Basic and clinical neuroscience (01.07.2024)
Journal Article
A comparison of buccal midazolam and intravenous diazepam for the acute treatment of seizures in children
Tonekaboni, Seyed-Hassan, Shamsabadi, Farhad Mahvelati, Anvari, Seyed-Saeed, Mazrooei, Ali, Ghofrani, Mohammad
Published in Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics (01.09.2012)
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Published in Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics (01.09.2012)
Journal Article
A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome
Amene Saghazadeh, Seyed Hassan Tonekaboni, Hossein Najmabadi, Nima Rezaei
Published in Acta medica Iranica (01.01.2019)
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Published in Acta medica Iranica (01.01.2019)
Journal Article