A. Khoshaeen

发表

A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome

M. Najafi, M. Mahdavi, A. Khoshaeen, 2020, Journal of Genetics.

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

R. Hennekam, A. Kariminejad, H. Najmabadi, 2014, The Journal of investigative dermatology.

Effect of inbreeding on intellectual disability revisited by trio sequencing

T. Wienker, H. Ropers, V. Kalscheuer, 2018, Clinical genetics.

First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy

M. Mahdavi, H. Jalali, A. Khoshaeen, 2022, Clinical case reports.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

A. Kariminejad, Navid Almadani, H. Tajsharghi, 2016, BMC Genetics.

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

K. Kahrizi, H. Najmabadi, F. Mojahedi, 2015, International journal of pediatric otorhinolaryngology.

Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran

M. Nothnagel, F. Bahrami, K. Kahrizi, 2020, Clinical genetics.

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

K. Kahrizi, H. Najmabadi, F. Mojahedi, 2012, International journal of pediatric otorhinolaryngology.

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia

M. Najafi, M. Mahdavi, H. Jalali, 2020, European Journal of Ophthalmology.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

A. Kariminejad, Navid Almadani, H. Tajsharghi, 2016, BMC Genetics.

An ultra-rare mutation (C.181C>T) in GALNS gene associated with Morquio syndrome: A case report

M. Najafi, M. Mahdavi, A. Khoshaeen, 2019 .