AMIR HOSSEIN SAEIDIAN to Genetic Predisposition to Disease
This is a "connection" page, showing publications AMIR HOSSEIN SAEIDIAN has written about Genetic Predisposition to Disease.
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Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants. Genet Med. 2024 Nov; 26(11):101225.
Score: 0.103
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Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. J Hepatol. 2019 08; 71(2):366-370.
Score: 0.071
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A CIB1 Splice-Site Founder Mutation in Families with?Typical Epidermodysplasia Verruciformis. J Invest Dermatol. 2019 05; 139(5):1195-1198.
Score: 0.069
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Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders. J Invest Dermatol. 2019 03; 139(3):522-527.
Score: 0.069
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Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population. J Inherit Metab Dis. 2018 11; 41(6):1159-1167.
Score: 0.068
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Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone. Matrix Biol. 2018 10; 71-72:313-329.
Score: 0.066
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Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. J Invest Dermatol. 2017 12; 137(12):2649-2652.
Score: 0.063
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Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability. J Invest Dermatol. 2017 02; 137(2):525-528.
Score: 0.060
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Mitochondrial DNA Copy Number as a Hidden Player in the Progression of Multiple Sclerosis: A Bidirectional Two-Sample Mendelian Randomization Study. Mol Neurobiol. 2025 Sep; 62(9):11643-11653.
Score: 0.027
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Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis. Nat Commun. 2025 Apr 01; 16(1):3101.
Score: 0.027