Stephanie Huynh
Vancouver, BC, Canada
Last Updated: 09/26/2026
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Found 17 publications
"I Am An HS Warrior": A Reflexive Thematic Analysis of #HidradenitisSuppurativa on TikTok.
Journal: Journal of cutaneous medicine and surgery
Published: January 16, 2026
Pilot Evaluation of a Digital Pretest Education Platform for Genomic Counseling: Perspectives of Health Care Providers and Patients.
Journal: Journal of genetic counseling
Published: August 06, 2025
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.
Journal: American journal of medical genetics. Part A
Published: July 29, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Journal: Epilepsia
Published: December 03, 2024
Tandem splice acceptor sites: Profiling their relevance to human disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 02, 2024
Correction: Multiciliated ependymal cells: an update on biology and pathology in the adult brain.
Journal: Acta neuropathologica
Published: November 14, 2024
Multiciliated ependymal cells: an update on biology and pathology in the adult brain.
Journal: Acta neuropathologica
Published: June 16, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Journal: medRxiv : the preprint server for health sciences
Published: February 14, 2024
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Journal: American journal of medical genetics. Part A
Published: November 23, 2023
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Journal: Nature communications
Published: August 09, 2023
NOTCH1 loss of the TAD and PEST domain: An antimorph?
Journal: American journal of medical genetics. Part A
Published: October 22, 2022
Behavioral Changes after Psychiatric Genetic Counseling: An Exploratory Study.
Journal: Public health genomics
Published: October 10, 2022
Last Updated: 09/26/2026