14 results on '"Eric Klee"'
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2. P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases
3. P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections
4. P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases
5. P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype
6. P485: Navigating the genetic odyssey: Enhancing early recognition and referral for precise diagnosis through human phenotype analysis
7. Position paper of the undiagnosed diseases network international with respect to the establishment of the journal Rare-Open research in rare diseases
8. P341: Identification of novel variants and phenotypic expansion in OGT-CDG
9. P327: Proof of concept core biopsy technique of vascular malformations for DNA and RNA sequencing with novel identification of PKD1 variant
10. P459: Exome sequencing analysis reveals enrichment of variants in known autosomal dominant hearing loss genes in patients with presbycusis
11. P570: Getting it right on the first test: Machine learning plus genome-wide methylation profiling resolves equivocal cases of Beckwith-Wiedemann syndrome
12. P586: Additional diagnoses through next-generation sequencing in cases initially considered solved by cytogenetics analysis
13. O50: A RENEW’d strategy to ending the diagnostic odyssey: Semi-automated REanalysis of NEgative Whole exome/genome cases
14. P651: Early results from a multiomics cohort: Unique RIPK1 fusions identified in two individuals with irritable bowel disease
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