Search Results - "Eslahi, Atiyeh"

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome by Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C E, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G

“…Trafficking protein particle (TRAPP) complexes, which include the TRAPPC4 protein, regulate membrane trafficking between lipid organelles in a process termed…”
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Pregnancy in a Patient With Mosaic Turner Syndrome: A Case Report by Shahrokhi Sabzevar, Shokouh, Mirzaei, Farzaneh, Tanipour, Mohammad Hossein, Eslahi, Atiyeh, Hasanzadeh Nazarabadi, Mohammad

“…Turner Syndrome (TS) is a chromosomal sex disorder, phenotypically characterized by short stature, webbed neck, cubitus valgus, and rarely with slight…”
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Generation of Zebrafish Models of Human Retinitis Pigmentosa Diseases Using CRISPR/Cas9-Mediated Gene Editing System by Mirzaei, Farzaneh, Eslahi, Atiyeh, Karimi, Sareh, Alizadeh, Farzaneh, Salmaninejad, Arash, Rezaei, Mohammad, Mozaffari, Sina, Hamzehloei, Tayebeh, Pasdar, Alireza, Mojarrad, Majid

“…Generating animal models can explore the role of new candidate genes in causing diseases and the pathogenicity of a specific mutation in the underlying genes…”
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A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome by Dehghani, MohammadReza, Mojarad, Majid, Ghayoor Karimiani, Ehsan, Vahidi Mehrjardi, Mohammad Yahya, Sahebalzamani, Afsaneh, Ashrafzadeh, Farah, Beiraghi Toosi, Mehran, Eslahi, Atiyeh, Ahangari, Najmeh, Yassini, Seyed Mojtaba, Hassanbeigi, Afsaneh, Rasti, Azam, Kalantar, Seyed Mehdi, Maroofian, Reza

“…Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain…”
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