Lesley K. Mcgregor
Adelaide, SA 5006, Australia
Last Updated: 09/26/2026
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Found 16 publications
Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia.
Journal: Children (Basel, Switzerland)
Published: May 13, 2024
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.
Journal: The Australian & New Zealand journal of obstetrics & gynaecology
Published: November 12, 2023
Australian guidelines for the management of children with achondroplasia.
Journal: Journal of paediatrics and child health
Published: June 03, 2022
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
Journal: Journal of paediatrics and child health
Published: January 20, 2021
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
Journal: American journal of medical genetics. Part A
Published: August 05, 2020
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Journal: Journal of human genetics
Published: July 15, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Journal: Human mutation
Published: May 31, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Journal: Human mutation
Published: February 09, 2019
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 16, 2019
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 05, 2018
Seizures in 3-month-old infant when placed on stomach.
Journal: Journal of paediatrics and child health
Published: August 07, 2017
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: June 16, 2017
Last Updated: 09/26/2026