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22 results on '"Ibañez, Kristina"'

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1. Increased frequency of repeat expansion mutations across different populations

2. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

3. REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

4. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

5. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

6. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

7. Deletion at 6q24.2–26 predicts longer survival of high-grade serous epithelial ovarian cancer patients

8. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

9. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

10. Additional file 5 of REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

11. Additional file 1 of REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

12. Additional file 4 of REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

13. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

14. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

15. A New Overgrowth Syndrome is due to Mutations in RNF125

16. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

18. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

19. CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

20. A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

21. Increased frequency of repeat expansion mutations across different populations.

22. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.

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