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11 results on '"Nadirah Damseh"'

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1. A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment

2. Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

3. Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?

4. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

5. FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy

6. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

7. Primary ciliary dyskinesia: mechanisms and management

8. Severe phenotype of X-linked dominant chondrodysplasia punctata

9. Mutations inSLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

10. A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

11. A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

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