10 results on '"Bhaskar, Sanjeev"'
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2. Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
3. The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
4. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
5. Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome
6. A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing
7. Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2
8. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
9. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
10. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
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