Stephanie Broley
Perth, WA, Australia
Last Updated: 09/26/2026
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Found 12 publications
Rare care - Cross-sector care coordination.
Journal: European journal of medical genetics
Published: March 15, 2024
Australian guidelines for the management of children with achondroplasia.
Journal: Journal of paediatrics and child health
Published: June 03, 2022
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Journal: NPJ genomic medicine
Published: June 25, 2020
A call for global action for rare diseases in Africa.
Journal: Nature genetics
Published: December 25, 2019
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Journal: Gene
Published: October 26, 2018
Silver Russel syndrome in an aboriginal patient from Australia.
Journal: American journal of medical genetics. Part A
Published: June 09, 2018
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Journal: Advances in experimental medicine and biology
Published: December 08, 2017
Initiating an undiagnosed diseases program in the Western Australian public health system.
Journal: Orphanet journal of rare diseases
Published: December 18, 2016
Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
Journal: European journal of medical genetics
Published: June 26, 2016
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Journal: Orphanet journal of rare diseases
Published: January 25, 2016
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
Journal: BMC musculoskeletal disorders
Published: July 12, 2013
Acceptance and commitment therapy in genetic counselling: a case study of recurrent worry.
Journal: Journal of genetic counseling
Published: October 09, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026