15 results on '"Yesil, Gozde"'
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2. Genetic and Clinical Features of Hereditary Spastic Paraplegia in Childhood: Identification of Eight Novel Variants
3. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
4. Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings
5. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
6. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
7. Phenotypic expansion illuminates multilocus pathogenic variation
8. A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood
9. MRI and MRS findings in fucosidosis; a rare lysosomal storage disease
10. Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia
11. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
12. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
13. Comparison of metabolic profile and abdominal fat distribution between karyotypically normal women with premature ovarian insufficiency and age matched controls
14. Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
15. Congenital Agenesis of Scrotum and Labia Majora in Siblings
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