Alison E. Gardner
Adelaide, SA 5005, Australia
Last Updated: 09/26/2026
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Found 42 publications
RNA variant assessment using transactivation and transdifferentiation.
Journal: American journal of human genetics
Published: March 08, 2024
Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 21, 2023
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.
Journal: Molecular psychiatry
Published: July 06, 2023
A Goat Cadaver as a Cost-effective Resource for Teaching Emergency Medicine Procedures in Kijabe, Kenya.
Journal: Pediatric emergency care
Published: July 05, 2021
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
Journal: NPJ genomic medicine
Published: April 27, 2021
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Journal: Neurology
Published: September 08, 2020
Missense variant contribution to USP9X-female syndrome.
Journal: NPJ genomic medicine
Published: August 07, 2020
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Journal: Human mutation
Published: July 05, 2020
Comparative mortality for children at one hospital in Kenya staffed with pediatric emergency medicine specialists.
Journal: African journal of emergency medicine : Revue africaine de la medecine d'urgence
Published: February 25, 2020
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.
Journal: European journal of medical genetics
Published: November 18, 2019
Last Updated: 09/26/2026