Padma Sivadorai
Nedlands, WA, Australia
Last Updated: 09/26/2026
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Found 10 publications
Diagnosis of Australasian Patients with Neuromuscular Disease: Insights from a Comprehensive Panel Approach.
Journal: The Journal of molecular diagnostics : JMD
Published: August 02, 2024
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Journal: Journal of medical genetics
Published: February 13, 2020
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
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.
Journal: BMC ophthalmology
Published: September 09, 2019
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Journal: Neurogastroenterology and motility
Published: December 13, 2017
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Journal: Orphanet journal of rare diseases
Published: August 20, 2015
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
Journal: Muscle & nerve
Published: August 29, 2014
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Journal: American journal of human genetics
Published: March 15, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Journal: American journal of human genetics
Published: February 27, 2013
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Journal: Neuromuscular disorders : NMD
Published: June 07, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026