Items where Author is "Garshasbi, M."

(2021) ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants. Human Genomics. ISSN 1473-9542

(2021) The effect of Shiatsu massage on agitation in mechanically ventilated patients: A randomized controlled trial. HEART & LUNG. pp. 893-897. ISSN 0147-9563 1527-3288 J9 - HEART LUNG

(2021) The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. Journal of Human Genetics. pp. 445-448. ISSN 1434-5161

(2020) Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses. Clinical Case Reports. pp. 2583-2591. ISSN 2050-0904

(2020) Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. Eur J Med Genet. p. 103750. ISSN 1878-0849 (Electronic) 1769-7212 (Linking)

(2020) The identification and stereochemistry analysis of a novel mutation p.(D367Tfs*61) in the CYP1B1 gene: A case report. Journal of Current Ophthalmology. pp. 114-118. ISSN 2452-2325

(2019) A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report. Journal of Current Ophthalmology. pp. 458-462. ISSN 2452-2325