A Case Series: Congenital Hyperinsulinism

por Alaei, Mohammad Reza, Akbaroghli, Susan, Keramatipour, Mohammad, Alaei, Ali
Publicado 2016

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

por Akbaroghli, Susan, Balali, Maryam, Kamalidehghan, Behnam, Saber, Siamak, Aryani, Omid, Meng, Goh Yong, Houshmand, Massoud
Publicado 2016

Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families

por AKBAROGHLI, Susan, KOOSHAVAR, Daniz, GOLCHEHRE, Zahra, KARAMZADE, Arezou, SABERI, Mohammad, ALAEI, Mohammad Reza, ABBASI SADEGH, Masoud, ASADOLLAHI, Mostafa, KERAMATIPOUR, Mohammad
Publicado 2022

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

por Kariminejad, Ariana, Afroozan, Fariba, Bozorgmehr, Bita, Ghanadan, Alireza, Akbaroghli, Susan, Khorram Khorshid, Hamid Reza, Mojahedi, Faezeh, Setoodeh, Aria, Loh, Abigail, Tan, Yu Xuan, Escande-Beillard, Nathalie, Malfait, Fransiska, Reversade, Bruno, Gardeitchik, Thatjana, Morava, Eva
Publicado 2017

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies

por Mohammadzadeh, Akbar, Akbaroghli, Susan, Aghaei-Moghadam, Ehsan, Mahdieh, Nejat, Badv, Reza Shervin, Jamali, Payman, Kariminejad, Roxana, Chavoshzadeh, Zahra, Ghasemi Firouzabadi, Saghar, Mansour Ghanaie, Roxana, Nozari, Ahoura, Banihashemi, Sussan, Hadipour, Fatemeh, Hadipour, Zahra, Kariminejad, Ariana, Najmabadi, Hossein, Shafeghati, Yousef, Behjati, Farkhondeh
Publicado 2019