Search Results - "Kashani, Morteza Rezvani"
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Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review
Published in BMC medical genomics (13-02-2024)“…Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and…”
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The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
Published in Human genomics (03-04-2024)“…To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children's Medical Center (CMC), the primary…”
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High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Published in Neurogenetics (01-10-2023)“…Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of the central…”
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Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Published in Neurogenetics (01-10-2023)Get full text
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EFFECTS OF GROWTH HORMONE ON MUSCLE STRENGTH, TONE AND MOBILITY OF CHILDREN WITH PRADER-WILLI SYNDROME
Published in Iranian journal of child neurology (01-12-2011)“…Objective Prader-Willi Syndrome (PWS) is a genetic syndrome presenting with severe hypotonia and decreased agility. Growth Hormone (GH), which is often used in…”
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