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Publications by Sally Ann Lynch
Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability
European Journal of Human Genetics
Genetics
The Contribution of 7q33 Copy Number Variations for Intellectual Disability
Neurogenetics
Molecular Neuroscience
Genetics
Cellular
P493 Late and Atypical Presentation of Mecp2 Mutation
P496 X- Linked Infantile Spinal Muscular Atrophy (Smax2) Caused by Novel C.1681g>a Substitution in the Uba1 Gene, Expanding the Phenotype
P430 Identifying Rare Disease Research Priorities Through (RAinDRoP) a Rare Disease Research Partnership
GP165 Towards Estimating the Incidence of Rare Diseases in a Paediatric Population, Born in Ireland in the Year 2000
GP227 Clinical Spectrum of Classical Galactosaemia Associated With Friedreich’s Ataxia in a Paediatric Cohort in the Republic of Ireland – An Update
OC27 National Newborn Screening for Cystic Fibrosis: Genetic Data From the First 6 Years
