Sharan L. Goobie
Halifax, NS, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 27 publications
Microfibril Denudation Marks Early Aortic Vulnerability in SMAD3 Variant Carriers: A Multigenerational Study.
Journal: Arteriosclerosis, thrombosis, and vascular biology
Published: June 11, 2026
Broadening the phenotypic and molecular spectrum of PRS deficiency in females.
Journal: HGG advances
Published: December 10, 2025
Broadening the phenotypic and molecular spectrum of PRS deficiency in females.
Journal: HGG advances
Published: December 10, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.
Journal: JIMD reports
Published: June 09, 2025
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.
Journal: Journal of medical genetics
Published: July 03, 2024
Family-centred care interventions for children with chronic conditions: A scoping review.
Journal: Health expectations : an international journal of public participation in health care and health policy
Published: June 30, 2023
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Journal: BMC pediatrics
Published: May 19, 2023
De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures.
Journal: Frontiers in neurology
Published: October 28, 2021
Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite.
Journal: Movement disorders clinical practice
Published: July 20, 2021
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Journal: American journal of medical genetics. Part A
Published: May 28, 2021
X-linked BCOR-related syndrome in two male siblings.
Journal: Clinical dysmorphology
Published: November 24, 2020
Last Updated: 09/26/2026