Found: 22
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Distinct genetic variation and heterogeneity of the Iranian population.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 9, p. 1, doi. 10.1371/journal.pgen.1008385
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- Article
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1418
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- Article
PDZD7 and Hearing Loss: More Than Just a Modifier.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2957, doi. 10.1002/ajmg.a.37274
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- Article
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1857, doi. 10.1002/ajmg.a.34411
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- Article
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
- Published in:
- Human Genetics, 2011, v. 129, n. 2, p. 141, doi. 10.1007/s00439-010-0907-3
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- Article
Genetic Analysis of 27 Y-STR Haplotypes in 11 Iranian Ethnic Groups.
- Published in:
- Archives of Iranian Medicine (AIM), 2024, v. 27, n. 2, p. 79, doi. 10.34172/aim.2024.13
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- Article
Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran.
- Published in:
- Archives of Iranian Medicine (AIM), 2023, v. 26, n. 5, p. 279, doi. 10.34172/aim.2023.43
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- Article
Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort.
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- Archives of Iranian Medicine (AIM), 2023, v. 26, n. 4, p. 186, doi. 10.34172/aim.2023.29
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- Article
An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.
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- Archives of Iranian Medicine (AIM), 2023, v. 26, n. 3, p. 176, doi. 10.34172/aim.2023.27
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- Article
Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.
- Published in:
- Archives of Iranian Medicine (AIM), 2022, v. 25, n. 9, p. 600, doi. 10.34172/aim.2022.95
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- Article
Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.
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- Archives of Iranian Medicine (AIM), 2020, v. 23, n. 12, p. 842, doi. 10.34172/aim.2020.112
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- Article
Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 611, doi. 10.1111/cge.14491
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- Article
Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 1, p. 59, doi. 10.1111/cge.13956
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- Article
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
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- Clinical Genetics, 2021, v. 99, n. 1, p. 187, doi. 10.1111/cge.13845
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- Article
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 718, doi. 10.1111/cge.13549
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- Article
Effect of inbreeding on intellectual disability revisited by trio sequencing.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 1, p. 151, doi. 10.1111/cge.13463
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- Article
Limbic System Associated Membrane Protein Mutation in an Iranian Family Diagnosed with Ménière's Disease.
- Published in:
- Archives of Iranian Medicine (AIM), 2020, v. 23, n. 5, p. 319, doi. 10.34172/aim.2020.21
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- Article
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
- Published in:
- Archives of Iranian Medicine (AIM), 2020, v. 23, n. 7, p. 426, doi. 10.34172/aim.2020.39
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- Article
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.
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- Archives of Iranian Medicine (AIM), 2019, v. 22, n. 4, p. 189
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- Article
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
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- Archives of Iranian Medicine (AIM), 2016, v. 19, n. 10, p. 724
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- Article
Iranome: A catalog of genomic variations in the Iranian population.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 1968, doi. 10.1002/humu.23880
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- Publication type:
- Article
GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.
- Published in:
- Human Mutation, 2002, v. 19, n. 5, p. 572, doi. 10.1002/humu.9033
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- Publication type:
- Article