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1. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

4. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder

5. Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies

6. Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder

7. Convergent Cerebrospinal Fluid Proteomes and Metabolic Ontologies in Humans and Animal Models of Rett Syndrome

8. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

9. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

10. Severe speech impairment is a distinguishing feature of FOXP1‐related disorder

11. Additional file 1 of Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder

12. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

14. Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)

15. Multisite Study of Evoked Potentials in Rett Syndrome

16. Int22h1/Int22h2 ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

18. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

19. Congenital Titinopathy: Comprehensive characterization and pathogenic insights

20. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

21. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

22. Congenital Titinopathy:Comprehensive characterization and pathogenic insights

23. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome

24. A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

25. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy: corrigendum

26. A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.

28. SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

29. Tissue Triage and Freezing for Models of Skeletal Muscle Disease

30. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

31. Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

32. Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome

34. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

35. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.

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