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American Journal of Medical Genetics. Part A|August 21, 2012
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in IranMojgan Babanejad, Zohreh Fattahi, Niloofar Bazazzadegan, et al.Archives of Iranian Medicine|July 1, 2021
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple FamiliesShahrouz Khoshbakht, Maryam Beheshtian, Zohreh Fattahi, et al.Molecular Genetics & Genomic Medicine|July 28, 2020
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disabilitySepideh Mehvari, Farzaneh Larti, Hao Hu, et al.Clinical Genetics|January 3, 2025
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data ReanalysisZohreh Fattahi, Ebrahim Shokouhian, Fatemeh Peymani, et al.European Journal of Human Genetics : EJHG|February 27, 2014
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disabilityFarzaneh Larti, Kimia Kahrizi, Luciana Musante, et al.American Journal of Medical Genetics. Part A|June 28, 2012
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf populationZohreh Fattahi, A Eliot Shearer, Mojgan Babanejad, et al.Clinical Genetics|September 8, 2020
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patientsMaryam Beheshtian, Tara Akhtarkhavari, Sepideh Mehvari, et al.Archives of Iranian Medicine|October 20, 2017
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic MyopathyMasoud Edizadeh, Raheleh Vazehan, Fatemeh Javadi, et al.Iranian Journal of Public Health|December 19, 2019
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year PeriodNiloofar Bazazzadegan, Raheleh Vazehan, Mahsa Fadaee, et al.International Journal of Pediatric Otorhinolaryngology|June 15, 2012
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year studyNiloofar Bazazzadegan, Nooshin Nikzat, Zohreh Fattahi, et al.Pageof 5