Last Updated: 09/26/2026
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Found 11 publications
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: medRxiv : the preprint server for health sciences
Published: March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: medRxiv : the preprint server for health sciences
Published: March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: American journal of human genetics
Published: February 15, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.
Journal: American journal of medical genetics. Part A
Published: January 19, 2026
Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.
Journal: Public health genomics
Published: January 14, 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1.
Journal: Molecular genetics and metabolism
Published: September 11, 2025
Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.
Journal: Public health genomics
Published: August 14, 2025
Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing.
Journal: The Neurohospitalist
Published: February 01, 2025
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 08, 2022
Current Studies of Immunotherapy on Glioblastoma.
Journal: Journal of neurology and neurosurgery
Published: October 28, 2014
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Last Updated: 09/26/2026