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You searched for: Author/Creator Sachdev, Rani

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1. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. (September 2018)

2. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. (December 2018)

3. Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. (30th March 2021)

4. Paediatric genomic testing: Navigating medicare rebatable genomic testing. (10th February 2021)

5. Phenotypic insights into ADCY5‐associated disease. Issue 7 (8th April 2016)

6. Paediatric genomic testing: Navigating genomic reports for the general paediatrician. (23rd August 2021)

7. Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy. (March 2022)

8. Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol. Issue 10 (26th October 2022)

9. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. Issue 11 (5th July 2022)

10. Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Issue 9 (15th July 2020)