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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00393-0
By:
- 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
Publication type:
Article
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00393-0
By:
- 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
Publication type:
Article
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Published in:
Archives of Iranian Medicine (AIM), 2022, v. 25, n. 12, p. 788, doi. 10.34172/aim.2022.124
By:
- Ehtesham, Naeim;
- Mosallaei, Meysam;
- Beheshtian, Maryam;
- Khoshbakht, Shahrouz;
- Fadaee, Mahsa;
- Vazehan, Raheleh;
- Zonooz, Mehrshid Faraji;
- Karimzadeh, Parvaneh;
- Kahrizi, Kimia;
- Najmabadi, Hossein
Publication type:
Article
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
Published in:
Archives of Iranian Medicine (AIM), 2021, v. 24, n. 5, p. 364, doi. 10.34172/aim.2021.53
By:
- Khoshbakht, Shahrouz;
- Beheshtian, Maryam;
- Fattahi, Zohreh;
- Bazazzadegan, Niloofar;
- Parsimehr, Elham;
- Fadaee, Mahsa;
- Vazehan, Raheleh;
- Zonooz, Mehrshid Faraji;
- Abolhassani, Ayda;
- Makvand, Mina;
- Kariminejad, Ariana;
- Celik, Arzu;
- Kahrizi, Kimia;
- Najmabadi, Hossein
Publication type:
Article
DOK7 congenital myasthenic syndrome: case series and review of literature.
Published in:
BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03713-0
By:
- Ziaadini, Bentolhoda;
- Ghaderi Yazdi, Bardyia;
- Dirandeh, Elham;
- Boostani, Reza;
- Karimi, Narges;
- Panahi, Akram;
- Kariminejad, Ariana;
- Fadaee, Mahsa;
- Ahangari, Fatemeh;
- Nafissi, Shahriar
Publication type:
Article
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Published in:
Clinical Genetics, 2021, v. 99, n. 1, p. 187, doi. 10.1111/cge.13845
By:
- 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
Publication type:
Article
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Published in:
Clinical Genetics, 2019, v. 95, n. 6, p. 718, doi. 10.1111/cge.13549
By:
- 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
Publication type:
Article
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.
Published in:
Archives of Iranian Medicine (AIM), 2017, v. 20, n. 9, p. 617
By:
- Edizadeh, Masoud;
- Vazehan, Raheleh;
- Javadi, Fatemeh;
- Dehdahsi, Shima;
- Fadaee, Mahsa;
- Zonooz, Mehrshid Faraji;
- Parsimehr, Elham;
- Ahangari, Fatemeh;
- Abolhassani, Ayda;
- Kalhor, Zahra;
- Fattahi, Zohreh;
- Beheshtian, Maryam;
- Kariminejad, Ariana;
- Akbari, Mohammad Reza;
- Najmabadi, Hossein;
- Nafissi, Shariar
Publication type:
Article
Profiling Fanconi Anemia Gene Mutations among Iranian Patients.
Published in:
Archives of Iranian Medicine (AIM), 2016, v. 19, n. 4, p. 236
By:
- Nia, Giti Esmail;
- Fadaee, Mahsa;
- Royer, Robert;
- Dehghan, Kooroush;
- Najmabadi, Hossein;
- Akbari, Mohammad R.
Publication type:
Article
Report of a Patient with Limb-Girdle Muscular Dystrophy, Ptosis and Ophthalmoparesis Caused by Plectinopathy.
Published in:
2015
By:
- Fattahi, Zohreh;
- Kahrizi, Kimia;
- Nafissi, Shahriar;
- Fadaee, Mahsa;
- Abedini, Seyedeh Sedigheh;
- Kariminejad, Ariana;
- Akbari, Mohammad R.;
- Najmabadi, Hossein
Publication type:
Journal Article
Report of a Patient with Limb-Girdle Muscular Dystrophy, Ptosis and Ophthalmoparesis Caused by Plectinopathy.
Published in:
Archives of Iranian Medicine (AIM), 2015, v. 18, n. 1, p. 60
By:
- Fattahi, Zohreh;
- Kahrizi, Kimia;
- Nafissi, Shahriar;
- Fadaee, Mahsa;
- Abedini, Seyedeh Sedigheh;
- Kariminejad, Ariana;
- Akbari, Mohammad R.;
- Najmabadi, Hossein
Publication type:
Article

Found: 11