12 results on '"Bayrak-Toydemir P"'
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2. O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges
3. P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
4. O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group
5. P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
6. P499: RNA-sequencing positional gene enrichment is a useful tool in resolving cases of X chromosome copy number variation
7. P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2
8. P524: Novel variants in EFL1 lead to a potential diagnosis of Shwachman-Diamond syndrome 2
9. P542: Overcoming polymer-induced variation in fragile X and Huntington disease repeat expansion assays
10. P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome
11. P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq
12. P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines
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