Last Updated: 09/26/2026
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Found 5 publications
Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.
Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.
Journal: International journal of neonatal screening
Published: March 08, 2022
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Journal: Scientific reports
Published: November 06, 2020
Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.
Journal: PloS one
Published: June 16, 2020
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.
Journal: Molecular genetics & genomic medicine
Published: May 01, 2020
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
Journal: American journal of medical genetics. Part A
Published: July 27, 2016
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Last Updated: 09/26/2026