Search Results
Showing results 21 to 40 of 60.
Article
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
March 03, 2022
Article
Stankiewicz-Isidor syndrome: Expanding the clinical and molecular phenotype
January 01, 2022
Insight
Screening Aimed to Advance Public Health Outcomes for Newborns
May 10, 2023
Article
Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome
August 01, 2015
News Release
Early Check study to use genome sequencing to dramatically expand voluntary screening offered for North Carolina newborns
September 20, 2023
Article
Anencephaly: Insights for genetic counseling
March 01, 2019
Article
Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates
April 01, 2013
Article
Reduction by naloxone of lipopolysaccharide-induced neurotoxicity in mouse cortical neuron-glia co-cultures
May 01, 2000
Article
Severe cardiac involvement is rare in patients with late-onset Pompe disease and the common c.-32-13T > G variant: Implications for newborn screening
July 01, 2018
Article
Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation
February 01, 2018
Article
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease
December 01, 2019
Article
Education and consent for population-based DNA screening: A mixed-methods evaluation of the Early Check Newborn Screening Pilot Study
May 12, 2022
Article
Adults with lysosomal storage diseases in the undiagnosed diseases network
September 01, 2022
Article
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
April 13, 2015
Article
Age of diagnosis for children with chromosome 15q syndromes
November 07, 2023
Article
Parent attitudes and perceptions after receiving Fragile X premutation results in the Early Check Newborn Screening Pilot Study (eP300)
March 01, 2022
Article
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features
October 01, 2018
Article
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples
February 01, 2022
Article
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
August 22, 2024
News Release
Three Babies with Spinal Muscular Atrophy Have Bright Futures Thanks in Part to North Carolina’s Early Check Program
May 27, 2021