12 results on '"Pizzo, Lucilla"'
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2. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
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3. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
4. P603: Utility of cytogenomic SNP microarray for bone marrow failure syndrome patients
5. P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing*
6. O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges
7. P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines
8. P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition
9. P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2
10. P485: Evaluating novel dosage sensitivity predictors for inclusion in the classification of recurrent copy number variants
11. P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
12. OP041: Implementation of 2019 ACMG technical standards for the interpretation and reporting of constitutional CNVs: Experiences from an academic reference laboratory
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