31 results on '"Maksemous, Neven"'
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2. Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes
3. Investigating a Genetic Link Between Alzheimer’s Disease and CADASIL-Related Cerebral Small Vessel Disease
4. Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches
5. Discriminating head trauma outcomes using machine learning and genomics
6. The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients
7. Tiered analysis of whole-exome sequencing for epilepsy diagnosis
8. Genome Sequencing in Esophageal Squamous Cell Carcinoma
9. P609: Improving genome diagnostics of hemiplegic migraine
10. Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine
11. Targeted Exonic Sequencing Identifies Novel Causes of Disease in a Cerebral Small Vessel Disease Cohort
12. Discriminating head trauma outcomes using machine learning and genomics
13. Eye movement disorders are an early manifestation of CACNA1A mutations in children
14. Novel compound heterozygous missense mutations in GDAP1 cause Charcot–Marie–Tooth type 4A
15. Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants
16. Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach
17. Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia
18. Variant Call Format–Diagnostic Annotation and Reporting Tool
19. Supplementary_Figure_1_(1) - Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine
20. Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine
21. Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity
22. Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case
23. Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes
24. Additional file 2: Table S2. of Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
25. Additional file 3: Table S3. of Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
26. Additional file 1: Table S1. of Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
27. Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
28. Eye movement disorders are an early manifestation ofCACNA1Amutations in children
29. Next‐generation sequencing identifies novelCACNA 1Agene mutations in episodic ataxia type 2
30. Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
31. Genome Sequencing in Esophageal Squamous Cell Carcinoma.
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