AMIR HOSSEIN SAEIDIAN to Mutation, Missense
This is a "connection" page, showing publications AMIR HOSSEIN SAEIDIAN has written about Mutation, Missense.
Connection Strength
0.731
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Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort. Genet Med. 2022 01; 24(1):75-86.
Score: 0.136
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Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement. J Invest Dermatol. 2021 11; 141(11):2752-2756.
Score: 0.131
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Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. Matrix Biol. 2019 08; 81:91-106.
Score: 0.110
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Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. Br J Dermatol. 2018 03; 178(3):e219-e221.
Score: 0.104
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A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. Orphanet J Rare Dis. 2017 12 06; 12(1):176.
Score: 0.103
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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: 0.095
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A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. Hum Mutat. 2019 02; 40(2):217-229.
Score: 0.028
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. J Invest Dermatol. 2017 03; 137(3):678-685.
Score: 0.024