Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia

Por Setoodeh, Aria, Haghighi, Amirreza, Saleh-Gohari, Nasrollah, Ellard, Sian, Haghighi, Alireza
Publicado em 2013

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1

Por Haghighi, Amirreza, Razzaghy-Azar, Maryam, Talea, Ali, Sadeghian, Mahnaz, Ellard, Sian, Haghighi, Alireza
Publicado em 2012

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility

Por Haghighi, Amirreza, Haghighi, Alireza, Setoodeh, Aria, Saleh-Gohari, Nasrollah, Astuti, Dewi, Barrett, Timothy G
Publicado em 2013

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

Por Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nürnberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nürnberg, Peter, Berger, Wolfgang
Publicado no PLoS One (2014)

Genetics of GNE myopathy in the non-Jewish Persian population

Por Haghighi, Alireza, Nafissi, Shahriar, Qurashi, Abrar, Tan, Zheng, Shamshiri, Hosein, Nilipour, Yalda, Haghighi, Amirreza, Desnick, Robert J, Kornreich, Ruth
Publicado no Eur J Hum Genet (2016)