Items where Author is "Lee, H."
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(2026) Global, regional and national burden of ischemic heart disease attributable to suboptimal diet, 1990-2023: a Global Burden of Disease study. Nature Medicine. pp. 1454-1478. ISSN 1078-8956
(2026) A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report. Journal of Medical Case Reports. p. 7.
(2024) Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability. Laboratory medicine. pp. 204-208. ISSN 1943-7730 (Electronic) 0007-5027 (Linking)
(2024) A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems. Molecular Genetics & Genomic Medicine. e2305. ISSN 2324-9269 (Electronic) 2324-9269 (Linking)
(2023) Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature. Bmc Medical Genomics. p. 20.
(2023) A deleterious frameshift insertion mutation in the <i>ZNF142</i> gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review. Molecular Genetics & Genomic Medicine. p. 11. ISSN 2324-9269
(2023) A novel heterozygous truncating variant in the <i>AGO1</i> gene in an Iranian family with schizophrenia as an unreported symptom. Annals of Human Genetics. pp. 295-301. ISSN 0003-4800


