A novel 8-bp duplication in ADAT3 causes mild intellectual disability von Salehi Chaleshtori, Ahmad Reza, Miyake, Noriko, Ahmadvand, Mohammad, Bashti, Oranous, Matsumoto, Naomichi, Noruzinia, Mehrdad

Volltext

A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report von Salehi Chaleshtori, Ahmad Reza, Garshasbi, Masoud, Salehi, Ali

Volltext

The identification of two pathogenic variants in a family with mild and severe forms of developmental delay von Miyake, Noriko, Heydari, Shermineh, Garshasbi, Masoud, Saitoh, Shinji, Nasiri, Jafar, Hamanaka, Kohei, Takata, Atsushi, Matsumoto, Naomichi, Beheshti, Farnaz Hosseini, Chaleshtori, Ahmad Reza Salehi

Volltext

Kleefstra Syndrome: The First Case Report From Iran von Noruzinia, Mehrdad, Ahmadvand, Mohammad, Bashti, Oranous, Salehi Chaleshtori, Ahmad Reza

Volltext

Another Novel Missense Mutation in ARSB Gene in Iran von Abbasi, Samaneh, Noruzinia, Mehrdad, Bashti, Oranous, Ahmadvand, Mohammad, Salehi Chaleshtori, Ahmad Reza, Mahootipou, Leila

Volltext

A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract von Behnam, Mahdiyeh, Imagawa, Eri, Chaleshtori, Ahmad Reza Salehi, Ronasian, Firooze, Salehi, Mansoor, Miyake, Noriko, Matsumoto, Naomichi

Volltext

Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population von Salehi Chaleshtori, Ahmad Reza, Garshasbi, Masoud, Salehi, Ali, Noruzinia, Mehrdad

Volltext

The identification and stereochemistry analysis of a novel mutation p.(D367Tfs61) in the CYP1B1 gene: A case report von Salehi Chaleshtori, Ahmad Reza, Garshasbi, Masoud, Salehi, Ali, Noruzinia, Mehrdad

Volltext

Application of Epstein-Barr Virus for Optimization of Immortalized B-lymphocyte Production as a Positive Control in Genetic Studies von Tousizadeh, Behnaz, Moghim, Sharareh, Chaleshtori, Ahmad, Ghanbarian, Maryam, Mirian, Mina, Salehi, Mansoor, Tousizadeh, Sepideh, Zaboli, Fatemeh

Volltext

The Identification and Stereochemistry Analysis of a Novel Mutation p.(D367Tfs61) in the CYP1B1 Gene: A Case Report von Salehi Chaleshtori, Ahmad Reza, Garshasbi, Masoud, Salehi, Ali, Noruzinia, Mehrdad

Volltext

A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report von Salehi Chaleshtori, Ahmad Reza, Garshasbi, Masoud, Salehi, Ali

Volltext

A novel 8-bp duplication in ADAT3 causes mild intellectual disability von Salehi Chaleshtori, Ahmad Reza, Miyake, Noriko, Ahmadvand, Mohammad, Bashti, Oranous, Matsumoto, Naomichi, Noruzinia, Mehrdad

Volltext