9 results on '"Jhangiani, Shalini N"'
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2. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
3. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
4. Lessons learned from additional research analyses of unsolved clinical exome cases
5. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
6. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics
7. POGZ truncating alleles cause syndromic intellectual disability
8. Secondary findings and carrier test frequencies in a large multiethnic sample
9. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics
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