10 results on '"Avila‐Fernandez, Almudena"'
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2. Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
3. Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies
4. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
5. Correction: Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
6. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
7. Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy
8. Human iPSC derived disease model of MERTK-associated retinitis pigmentosa
9. High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
10. Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
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