Keywords = Mutation
Number of Articles: 8
1. Evaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss

Volume 7, Issue 2, February 2019, Pages 9053-9060

Seyed Hamid Reza Abtahi; Ali Malekzadeh; Saeed Soheilipour; Mansour Salehi; Roya Taleban; Reyhaneh Rabieian; Mohammad Moafi


2. Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease

Volume 6, Issue 2, February 2018, Pages 7033-7037

Sara Mirzajani; Mehdi Mohebi; Mohammad Miryounesi; Vahid Reza Yassaee; Soudeh Ghafouri-Fard


3. A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy

Volume 6, Issue 1, January 2018, Pages 6999-7002

Soudeh Ghafouri-Fard; Majid Fardaei; Seyed Mohammad Bagher Tabei; Mehdi Dianatpour; Mohammad Miryounesi


4. Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene

Volume 6, Issue 1, January 2018, Pages 6899-6902

Nader Ebadi; Sepehr Javadi; TayyebAli Salmani; Mohammad Miryounesi; Vahid Reza Yassaee; Soudeh Ghafouri-Fard


5. I-Cell Disease with GNPTAB Gene Mutation

Volume 5, Issue 12, December 2017, Pages 6261-6265

Bhat.Y Ramesh; Tangirala Susmitha; Lewis Leslie; Purkayastha Jayashree


6. Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children

Volume 5, Issue 10, October 2017, Pages 5839-5842

Nadia El Idrissi Slitine; Fatiha Bennaoui; Ouidad Louachama; Leila Habibi; Naima Fdil; Abdelali Tali; Laila Chabaa; Fadl Mrabih Rabou Maoulainine


7. A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report

Volume 4, Issue 2, February 2016, Pages 1315-1318

Soudeh Ghafouri-Fard; Shadab Salehpour; Vahidreza Yassaee; Mohammad Miryounesi


8. Association of mtDNA mutation with Autism in Iranian patients

Volume 1, Issue 1, August 2013, Pages 39-43

Massoud Houshmand; Kazem Mousavizadeh; Mohammad Askari; Amin Reza Nikpour; Mohsen Mazidi; Maryam Tavafjadid