DOK7 congenital myasthenic syndrome: case series and review of literature von Ziaadini, Bentolhoda, Ghaderi Yazdi, Bardyia, Dirandeh, Elham, Boostani, Reza, Karimi, Narges, Panahi, Akram, Kariminejad, Ariana, Fadaee, Mahsa, Ahangari, Fatemeh, Nafissi, Shahriar

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P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders von Abolhassani, Ayda, Fattahi, Zohreh, Beheshtian, Maryam, Fadaee, Mahsa, Vazehan, Raheleh, Ahangari, Fatemeh, Dehdahsi, Shima, Zonooz, Mehrshid Faraji, Parsimehr, Elham, Kalhor, Zahra, Peymani, Fatemeh, Nouri, Maryam Mozaffarpour, Babanejad, Mojgan, Noudehi, Khadijeh, Fatehi, Fatemeh, Najafabadi, Shima Zamanian, Afroozan, Fariba, Yazdan, Hilda, Bozorgmehr, Bita, Azarkeivan, Azita, Mahdavi, Shokouh Sadat, Nikuei, Pooneh, Fatehi, Farzad, Jamali, Payman, Ashrafi, Mahmoud Reza, Karimzadeh, Parvaneh, Habibi, Haleh, Kahrizi, Kimia, Nafissi, Shahriar, Kariminejad, Ariana, Najmabadi, Hossein

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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period von Bazazzadegan, Niloofar, Vazehan, Raheleh, Fadaee, Mahsa, Fattahi, Zohreh, Abolhassani, Ayda, Parsimehr, Elham, Kalhor, Zahra, Faraji Zonooz, Mehrshid, Ahangari, Fatemeh, Dehdahsi, Shima, Samiee, Farshide, Jamali, Payman, Habibi, Haleh, Nourizadeh, Younes, Mahdavi, Shokouh, Beheshtian, Maryam, Kariminejad, Ariana, Smith, Richard Jh, Najmabadi, Hossein

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Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammator... von Faraji Zonooz, Mehrshid, Sabbagh-Kermani, Farahnaz, Fattahi, Zohreh, Fadaee, Mahsa, Akbari, Mohammad Reza, Amiri, Rezvan, Vahidnezhad, Hassan, Uitto, Jouni, Najmabadi, Hossein, Kariminejad, Ariana

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Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability von Ehtesham, Naeim, Mosallaei, Meysam, Beheshtian, Maryam, Khoshbakht, Shahrouz, Fadaee, Mahsa, Vazehan, Raheleh, Faraji Zonooz, Mehrshid, Karimzadeh, Parvaneh, Kahrizi, Kimia, Najmabadi, Hossein

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Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients von Beheshtian, Maryam, Akhtarkhavari, Tara, Mehvari, Sepideh, Mohseni, Marzieh, Fattahi, Zohreh, Abedini, Seyedeh Sedigheh, Arzhangi, Sanaz, Fadaee, Mahsa, Jamali, Payman, Najafipour, Reza, Kalscheuer, Vera M., Hu, Hao, Ropers, Hans‐Hilger, Najmabadi, Hossein, Kahrizi, Kimia

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CEP104 and CEP290 ; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families von Khoshbakht, Shahrouz, Beheshtian, Maryam, Fattahi, Zohreh, Bazazzadegan, Niloofar, Parsimehr, Elham, Fadaee, Mahsa, Vazehan, Raheleh, Faraji Zonooz, Mehrshid, Abolhassani, Ayda, Makvand, Mina, Kariminejad, Ariana, Celik, Arzu, Kahrizi, Kimia, Najmabadi, Hossein

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Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families von Beheshtian, Maryam, Fattahi, Zohreh, Fadaee, Mahsa, Vazehan, Raheleh, Jamali, Payman, Parsimehr, Elham, Kamgar, Mahboubeh, Zonooz, Mehrshid Faraji, Mahdavi, Shokouh Sadat, Kalhor, Zahra, Arzhangi, Sanaz, Abedini, Seyedeh Sedigheh, Kermani, Farahnaz Sabbagh, Mojahedi, Faezeh, Kalscheuer, Vera M., Ropers, Hans‐Hilger, Kariminejad, Ariana, Najmabadi, Hossein, Kahrizi, Kimia

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Profiling Fanconi Anemia Gene Mutations among Iranian Patients von Nia, Giti Esmail, Fadaee, Mahsa, Royer, Robert, Dehghan, Kooroush, Najmabadi, Hossein, Akbari, Mohammad R

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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population von Abolhassani, Ayda, Fattahi, Zohreh, Beheshtian, Maryam, Fadaee, Mahsa, Vazehan, Raheleh, Ahangari, Fatemeh, Dehdahsi, Shima, Faraji Zonooz, Mehrshid, Parsimehr, Elham, Kalhor, Zahra, Peymani, Fatemeh, Mozaffarpour Nouri, Maryam, Babanejad, Mojgan, Noudehi, Khadijeh, Fatehi, Fatemeh, Zamanian Najafabadi, Shima, Afroozan, Fariba, Yazdan, Hilda, Bozorgmehr, Bita, Azarkeivan, Azita, Sadat Mahdavi, Shokouh, Nikuei, Pooneh, Fatehi, Farzad, Jamali, Payman, Ashrafi, Mahmoud Reza, Karimzadeh, Parvaneh, Habibi, Haleh, Kahrizi, Kimia, Nafissi, Shahriar, Kariminejad, Ariana, Najmabadi, Hossein

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Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene von Fadaee, Mahsa, Kariminejad, Ariana, Fattahi, Zohreh, Nafissi, Shahriar, Godarzi, Hamed Reza, Beheshtian, Maryam, Vazehan, Raheleh, Akbari, Mohammad Reza, Kahrizi, Kimia, Najmabadi, Hossein

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Report of a Patient with Limb-Girdle Muscular Dystrophy, Ptosis and Ophthalmoparesis Caused by Plectinopathy von Fattahi, Zohreh, Kahrizi, Kimia, Nafissi, Shahriar, Fadaee, Mahsa, Abedini, Seyedeh Sedigheh, Kariminejad, Ariana, Akbari, Mohammad R, Najmabadi, Hossein

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De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy von Edizadeh, Masoud, Vazehan, Raheleh, Javadi, Fatemeh, Shima Dehdahsi, Fadaee, Mahsa, Mehrshid Faraji Zonooz, Parsimehr, Elham, Ahangari, Fatemeh, Abolhassani, Ayda, Kalhor, Zahra, Fattahi, Zohreh, Beheshtian, Maryam, Kariminejad, Ariana, Akbari, Mohammad Reza, Najmabadi, Hossein, Nafissi, Shahriar

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The Evaluation of Low Back Pain Prevalence in First Year of Anesthesiologists’ Career; A cross sectional study von Fariborz Mehrani, Mahsa Fadaee, Sahar Sadat Dehghan Manshadi, Parisa Gozali kalansara, Kosar Ahmadi, Amirhossein Orandi, Jayran Zebardast, Ali-Akbar Nejatisafa, Saeed Khorramnia, Negar Eftekhar, Hossein Majedi

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