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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
- Published in:
- Human Genetics, 2007, v. 121, n. 1, p. 43, doi. 10.1007/s00439-006-0292-0
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- Article
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
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- Nature, 2011, v. 478, n. 7367, p. 57, doi. 10.1038/nature10423
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- Article
A dual-center analysis of conservative versus liberal glycoprotein IIb–IIIa antagonist strategies in the treatment of ST-elevation myocardial infarction.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-64652-x
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- Article
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
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- Cell Journal (Yakhteh), 2019, v. 21, n. 3, p. 337, doi. 10.22074/cellj.2019.6053
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- Article
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 125, doi. 10.1038/ejhg.2008.159
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- Article
Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran.
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- 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.
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- Clinical Genetics, 2019, v. 95, n. 6, p. 718, doi. 10.1111/cge.13549
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- Article
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
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- 2009
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- journal article
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
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- Human Mutation, 2017, v. 38, n. 6, p. 621, doi. 10.1002/humu.23205
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- Article
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1915, doi. 10.1002/ajmg.a.36030
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- Article