Kym Mina
Perth, WA, Australia
Last Updated: 09/26/2026
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Found 15 publications
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.
Journal: Clinical genetics
Published: March 06, 2021
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Journal: Annals of clinical and translational neurology
Published: December 16, 2019
Pharmacogenomics in general practice: The time has come.
Journal: Australian journal of general practice
Published: July 01, 2019
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Journal: Gene
Published: October 26, 2018
Carrier screening "within the panel".
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 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
Genotype and phenotype spectrum of NRAS germline variants.
Journal: European journal of human genetics : EJHG
Published: December 22, 2016
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
Somatic-gonadal mosaicism causing Sotos syndrome.
Journal: American journal of medical genetics. Part A
Published: March 10, 2016
Last Updated: 09/26/2026