SM
Shahida Moosa

Publications (5)

RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
Article scientifique · 2025
An Incomplete Picture: A Scoping Review of Global, Original Qualitative Rare Disease Research
Article scientifique · 2024
Case report: Enamel renal syndrome: a case series from sub-Saharan Africa
Article scientifique · 2023
Utility of Next Generation Sequencing in Paediatric Neurological Disorders: experience from South Africa
Article scientifique · 2023
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Article scientifique · 2019

Domaines principaux

Sciences de la vie et biotechnologies4 Sciences de la santé1

Statistiques

Consultations5
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