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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. 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)

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

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

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

7. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Issue 11 (November 2020)

8. Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty. (7th September 2022)

9. Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty. (7th September 2022)

10. Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope. (5th September 2022)