Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss

Por MASOUDI, Marjan, AHANGARI, Najmeh, POURSADEGH ZONOUZI, Ali Akbar, POURSADEGH ZONOUZI, Ahmad, NEJATIZADEH, Azim
Publicado no Iran J Public Health (2016)

Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations

Por NASERI, Marzieh, AKBARZADEHLALEH, Masoud, MASOUDI, Marjan, AHANGARI, Najmeh, POURSADEGH ZONOUZI, Ali Akbar, POURSADEGH ZONOUZI, Ahmad, SHAMS, Leila, NEJATIZADEH, Azim
Publicado no Iran J Public Health (2018)

Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndrom...

Por Laleh, Masoud Akbarzadeh, Naseri, Marzieh, Zonouzi, Ali Akbar Poursadegh, Zonouzi, Ahmad Poursadegh, Masoudi, Marjan, Ahangari, Najmeh, Shams, Leila, Nejatizadeh, Azim
Publicado no J Res Med Sci (2017)

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis

Por Hashemian, Somayyeh, Eshraghi, Peyman, Dilaver, Nafi, Galehdari, Hamid, Shalbafan, Bita, Vakili, Rahim, Ghaemi, Nosrat, Ahangari, Najmeh, Rezazadeh Varaghchi, Jamileh, Zeighami, Jawaher, Sedaghat, Alireza, Aminzadeh, Majid, Hamid, Mohammad, Saberi, Alihossein, Ashtari, Fereshteh, Ghayoor Karimiani, Ehsan, Shariati, Gholamreza
Publicado no Iran J Child Neurol (2019)

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Por Vona, Barbara, Maroofian, Reza, Bellacchio, Emanuele, Najafi, Maryam, Thompson, Kyle, Alahmad, Ahmad, He, Langping, Ahangari, Najmeh, Rad, Abolfazl, Shahrokhzadeh, Sima, Bahena, Paulina, Mittag, Falk, Traub, Frank, Movaffagh, Jebrail, Amiri, Nafise, Doosti, Mohammad, Boostani, Reza, Shirzadeh, Ebrahim, Haaf, Thomas, Diodato, Daria, Schmidts, Miriam, Taylor, Robert W., Karimiani, Ehsan Ghayoor
Publicado no BMC Med Genet (2018)

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Por Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambin, Tomasz, Sorte, Hanne S., Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A., Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R., Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E.
Publicado no Eur J Hum Genet (2018)