24 results on '"Gómez-Manjón, Irene"'
Search Results
2. Diagnostic yield of genetic testing in adults with sensorineural hearing loss
3. Diagnóstico genético de la hipoacusia neurosensorial infantil
4. Genetic diagnosis of childhood sensorineural hearing loss
5. Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis
6. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
7. Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.
8. Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial
9. Non-Invasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield
10. N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants
11. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review
12. Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations
13. CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy
14. Desarrollo de un protocolo integral de secuenciación masiva para el diagnóstico prenatal de aneuploidías en plasma materno
15. Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature
16. A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
17. Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
18. Prioritization of exome variants through an automatic system using HPO terms
19. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
20. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
21. Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield
22. Encefalopatía epiléptica del lactante: lo prioritario es un buen estudio genético
23. A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
24. Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.