Výsledky vyhledávání - Saeidi, Kolsoum

Haplotype Analysis in Carriers of β-Globin Gene Mutation Facilitates Genetic Counseling in β-Thalassemia: A Cross-Sectional Study in Kerman Province, Iran Autor SALEH-GOHARI, Nasrollah, SAEIDI, Kolsoum, ZIAADINI-DASHTKHAKI, Sima

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A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia Autor SAEIDI, Kolsoum, SALEH GOHARI, Nasrollah, MANSOURI NEJAD, Seyed Ebrahim

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Alzheimer’s Disease: Pathophysiology and Applications of Magnetic Nanoparticles as MRI Theranostic Agents Autor Amiri, Houshang, Saeidi, Kolsoum, Borhani, Parvin, Manafirad, Arash, Ghavami, Mahdi, Zerbi, Valerio

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Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel Autor Kannan-Sundhari, Abhiraami, Yan, Denise, Saeidi, Kolsoum, Sahebalzamani, Afsaneh, Blanton, Susan H., Liu, Xue Zhong

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Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis Autor Shang, Haiqiong, Yan, Denise, Tayebi, Naeimeh, Saeidi, Kolsoum, Sahebalzamani, Afsaneh, Feng, Yong, Blanton, Susan, Liu, Xuezhong

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Genotype-phenotype correlation in Pompe disease, a step forward Autor De Filippi, Paola, Saeidi, Kolsoum, Ravaglia, Sabrina, Dardis, Andrea, Angelini, Corrado, Mongini, Tiziana, Morandi, Lucia, Moggio, Maurizio, Di Muzio, Antonio, Filosto, Massimiliano, Bembi, Bruno, Giannini, Fabio, Marrosu, Giovanni, Rigoldi, Miriam, Tonin, Paola, Servidei, Serenella, Siciliano, Gabriele, Carlucci, Annalisa, Scotti, Claudia, Comelli, Mario, Toscano, Antonio, Danesino, Cesare

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MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) Autor Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam

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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia Autor Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Vargas Parra, Karen, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M., Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish Autor Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G, Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T, Aubertin, Gudrun, Estrada-Veras, Juvianee I, Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L, Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S, Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z, Mora, Sara, Palculict, Timothy B, Yang, Hui, Wren, Jonathan D, Fowler, Ben, Joshi, Manali, Behra, Martine, Burgess, Shawn M, Nath, Swapan K, Hanna, Michael G, Kenna, Margaret, Merritt, J Lawrence, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S, Haaf, Thomas, Alkuraya, Fowzan S, Gleeson, Joseph G, Varshney, Gaurav K

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