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3. Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

4. A mammalian-specific Alex3/Gα q protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival

8. Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies

9. A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.

10. EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

12. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

19. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

22. Altered retinal structure and function in Spinocerebellar ataxia type 3

23. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

28. A novel Alex3/Gαq protein complex regulating mitochondrial dynamics, dendritic complexity, and neuronal survival

33. Additional file 2 of Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

34. Additional file 1 of Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

35. Pautes per avaluar projectes de recerca i innovació en salut que utilitzin tecnologies emergents i dades personals

36. Interrogants i reptes actuals de l'edició genètica

37. Expression of deubiquitinating enzyme genes in the developing mammal retina

39. Contributors

46. A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype

49. Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

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