Paper Details

Isfahan University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):

Faculty Members have conducted research related to the A Novel Pathogenic Variant in the Mitf Gene Segregating With a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred

Mahsa Sepehrnejad

Mahsa Sepehrnejad

Instructor of Audiology

Department of Audiology, School of Rehabilitation Sciences

Isfahan University of Medical Sciences

Related Documents

1. Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in Myo15a Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees, Lab Medicine (2022)

2. A Novel Pathogenic Variant in the Lrtomt Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family, BMC Medical Genetics (2020)

All Documents

1. Cochlear Reimplantation Rate, Causes, and Outcomes: A Multicenter Study, Cochlear Implants International (2025)

2. Wideband Tympanometry: Normative Data for Young Iranian Adults, Audiology and Neurotology (2023)

3. Standardization (Translating and Evaluating the Validity and Reliability) of the Speech, Spatial, and Qualities of Hearing Scale Questionnaire-12(Ssq12) to the Persian Language, Journal of Rehabilitation Sciences and Research (2022)

4. Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in Myo15a Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees, Lab Medicine (2022)

5. A Novel Pathogenic Variant in the Lrtomt Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family, BMC Medical Genetics (2020)

6. A Novel Pathogenic Variant in the Lrtomt Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family, BMC Medical Genetics (2020)

7. Effect of N-Acetylcysteine on Cochlear Function in Patients With Chronic Kidney Disease Undergoing Hemodialysis, Indian Journal of Otology (2018)

8. Beck Depression Inventory-Ii in Hearing Impaired Elderly Patients: A Presbycusis Study, Indian Journal of Otology (2017)

9. Evaluation of Ophthalmic Disorders in Children With Congenital Sensorineural Hearing Loss and Cochlear Implant, Journal of Isfahan Medical School (2017)

10. The Religious Coping and Quality of Life in Mothers of Children With Hearing Deficiency, Iranian Rehabilitation Journal (2015)

11. Ear Surgery Techniques Results on Hearing Threshold Improvement, Journal of Research in Medical Sciences (2013)

12. Comparison of Nursing Home Hearing Handicap Index With Audiological Findings: A Presbycusis Study, Journal of Aging Research (2012)