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List of works by Patricia Hall

A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.

scientific article published on 22 December 2011

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith–Lemli–Opitz Syndrome

scientific article published on 10 April 2013

Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis

scientific article

LC-MS/MS progress in newborn screening

scientific article published on 13 August 2010

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity

scientific article

Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns

scientific article published on 23 October 2020

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: Performance improvement by monitoring a new ratio

scientific article published on 16 October 2014

Occurrence and relationship of organophosphorus insecticides and their degradation products in the atmosphere in Western Canada agricultural regions

scientific article published on 26 October 2010

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

scientific article

Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement

scientific article published on 14 March 2020

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

scientific article

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency

scientific article published on 10 March 2018

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing

scientific article published on 16 June 2016

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