Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Mahsa FADAEE"'
Autor:
Bentolhoda Ziaadini, Bardyia Ghaderi Yazdi, Elham Dirandeh, Reza Boostani, Narges Karimi, Akram Panahi, Ariana Kariminejad, Mahsa Fadaee, Fatemeh Ahangari, Shahriar Nafissi
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause
Externí odkaz:
https://doaj.org/article/33af266c53ba4db6b2e0ab438b7936b2
Autor:
Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of NGS in unselected cohorts of Middle Eastern patients have reported
Externí odkaz:
https://doaj.org/article/d0de56f0485d43639ba3ed001723c22f
Autor:
Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101510- (2024)
Externí odkaz:
https://doaj.org/article/2b6cd8a2516d4c7dba834e7f5dd8bf1b
Autor:
Niloofar BAZAZZADEGAN, Raheleh VAZEHAN, Mahsa FADAEE, Zohreh FATTAHI, Ayda ABOLHASSANI, Elham PARSIMEHR, Zahra KALHOR, Mehrshid FARAJI ZONOOZ, Fatemeh AHANGARI, Shima DEHDAHSI, Farshide SAMIEE, Payman JAMALI, Haleh HABIBI, Younes NOURIZADEH, Shokouh MAHDAVI, Maryam BEHESHTIAN, Ariana KARIMINEJAD, Richard JH SMITH, Hossein NAJMABADI
Publikováno v:
Iranian Journal of Public Health, Vol 48, Iss 10 (2019)
Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important espe-cially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is preva-lent. Techniques such as next
Externí odkaz:
https://doaj.org/article/2bb2e364df144354b6a117fcf7751f96
Autor:
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
Publikováno v:
Archives of Anesthesia and Critical Care, Vol 4, Iss 2 (2018)
Background: Low Back Pain (LBP) is a common musculoskeletal disorder which may have an occupational or non-occupational etiology and is seen in many health care providers. It is an important cause of morbidity and workplace absence. Various factors m
Externí odkaz:
https://doaj.org/article/390628068e94495bb4cdc4f741accc67
Autor:
Naeim Ehtesham, Meysam Mosallaei, Maryam Beheshtian, Shahrouz Khoshbakht, Mahsa Fadaee, Raheleh Vazehan, Mehrshid Faraji Zonooz, Parvaneh Karimzadeh, Kimia Kahrizi, Hossein Najmabadi
Publikováno v:
Archives of Iranian Medicine. 25:788-797
Background: Ion channel dysfunction in the brain can lead to impairment of neuronal membranes and generate several neurological diseases, especially neurodevelopmental disorders. Methods: In this study, we set out to delineate the genotype and phenot
Autor:
Kimia Kahrizi, Mahsa Fadaee, Zohreh Fattahi, Maryam Beheshtian, Shahrouz Khoshbakht, Raheleh Vazehan, Ayda Abolhassani, Arzu Celik, Ariana Kariminejad, Mina Makvand, Mehrshid Faraji Zonooz, Hossein Najmabadi, Niloofar Bazazzadegan, Elham Parsimehr
Publikováno v:
Archives of Iranian Medicine. 24:364-373
Background Neurodevelopmental and intellectual impairments are extremely heterogeneous disorders caused by a diverse variety of genes involved in different molecular pathways and networks. Genetic alterations in cilia, highly-conserved organelles wit
Autor:
Seyedeh Sedigheh Abedini, Vera M. Kalscheuer, Sanaz Arzhangi, Hossein Najmabadi, Zohreh Fattahi, Maryam Beheshtian, Reza Najafipour, Hao Hu, K. Kahrizi, Mahsa Fadaee, Hans-Hilger Ropers, Payman Jamali, Sepideh Mehvari, Tara Akhtarkhavari, Marzieh Mohseni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2734ea1b931976edfad46c62c71fff2
https://doi.org/10.1111/cge.13845/v2/response1
https://doi.org/10.1111/cge.13845/v2/response1
Autor:
Seyedeh Sedigheh Abedini, Zohreh Fattahi, Kimia Kahrizi, Maryam Beheshtian, Hossein Najmabadi, Marzieh Mohseni, Sepideh Mehvari, Payman Jamali, Tara Akhtarkhavari, Hans-Hilger Ropers, Vera M. Kalscheuer, Hao Hu, Sanaz Arzhangi, Mahsa Fadaee, Reza Najafipour
Publikováno v:
Clinical Genetics: an international journal of genetics in medicine
Mutations in adaptor protein complex‐4 (AP‐4) genes have first been identified in 2009, causing a phenotype termed as AP‐4 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) a
Autor:
Raheleh Vazehan, Hans-Hilger Ropers, Elham Parsimehr, Zahra Kalhor, Seyedeh Sedighe Abedini, Mahboubeh Kamgar, Faezeh Mojahedi, K. Kahrizi, Ariana Kariminejad, Farahnaz Sabbagh Kermani, Mahsa Fadaee, Zohreh Fattahi, Vera M. Kalscheuer, Mehrshid Faraji Zonooz, Maryam Beheshtian, Sanaz Arzhangi, Shokouh Sadat Mahdavi, Payman Jamali, Hossein Najmabadi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fff711e3ecf3e7c1323f891e04ae0d9f
https://doi.org/10.1111/cge.13549/v2/response1
https://doi.org/10.1111/cge.13549/v2/response1