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Majid Changi-Ashtiani

11

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123

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Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

2021 Cell
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Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

2019 Journal of Experimental Medicine
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Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome

2019 Iranian Journal of Allergy Asthma and Immunology
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GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease

2019 Journal of Clinical Laboratory Analysis
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A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia

2019 Annals of Human Genetics
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A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency

2019 Iranian Journal of Allergy Asthma and Immunology
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Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss

2019 Mitochondrion
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Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth

2019 International Journal of Molecular and Cellular Medicine
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Draft Genome Sequence of Pseudomonas gingeri Strain LMG 5327, the Causative Agent of Ginger Blotch in Agaricus bisporus

2018 Genome Announcements
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