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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Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families
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
Published in Clinical genetics (01.06.2019)
Published in Clinical genetics (01.06.2019)
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The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—A twelve year study
Bazazzadegan, Niloofar, Nikzat, Nooshin, Fattahi, Zohreh, Nishimura, Carla, Meyer, Nicole, Sahraian, Shima, Jamali, Payman, Babanejad, Mojgan, Kashef, Atie, Yazdan, Hilda, Sabbagh Kermani, Farahnaz, Taghdiri, Maryam, Azadeh, Batool, Mojahedi, Faezeh, Khoshaeen, Atefeh, Habibi, Haleh, Reyhanifar, Farahnaz, Nouri, Narges, Smith, Richard J.H, Kahrizi, Kimia, Najmabadi, Hossein
Published in International journal of pediatric otorhinolaryngology (01.08.2012)
Published in International journal of pediatric otorhinolaryngology (01.08.2012)
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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Groza, Tudor, Köhler, Sebastian, Moldenhauer, Dawid, Vasilevsky, Nicole, Baynam, Gareth, Zemojtel, Tomasz, Schriml, Lynn Marie, Kibbe, Warren Alden, Schofield, Paul N., Beck, Tim, Vasant, Drashtti, Brookes, Anthony J., Zankl, Andreas, Washington, Nicole L., Mungall, Christopher J., Lewis, Suzanna E., Haendel, Melissa A., Parkinson, Helen, Robinson, Peter N.
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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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 Autoinflammatory Skin Phenotypes
Faraji Zonooz, Mehrshid, Sabbagh-Kermani, Farahnaz, Fattahi, Zohreh, Fadaee, Mahsa, Akbari, Mohammad Reza, Amiri, Rezvan, Vahidnezhad, Hassan, Uitto, Jouni, Najmabadi, Hossein, Kariminejad, Ariana
Published in Journal of investigative dermatology (01.06.2016)
Published in Journal of investigative dermatology (01.06.2016)
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Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of Hearing Loss in Iranian population
Kashef, Atie, Nikzat, Nooshin, Bazzazadegan, Niloofar, Fattahi, Zohreh, Sabbagh-Kermani, Farahnaz, Taghdiri, Maryam, Azadeh, Batool, Mojahedi, Faezeh, Khoshaeen, Atefeh, Habibi, Haleh, Najmabadi, Hossein, Kahrizi, Kimia
Published in International journal of pediatric otorhinolaryngology (01.02.2015)
Published in International journal of pediatric otorhinolaryngology (01.02.2015)
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