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Genetics in Medicine Open|January 15, 2026
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe diseaseAnkit K Desai, Eleanor Rodriguez-Rassi, Suhag Parikh, et al.Cancer Epidemiology|February 14, 2014
Comparison of HPV genotypes and viral load between different sites of genital tract: the significance for cervical cancer screeningShao-Kai Zhang, Pu-Wa Ci, Christine Velicer, et al.JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.American Journal of Medical Genetics. Part A|October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literatureSheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.American Journal of Human Genetics|April 16, 2019
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of MicrogliaNynke Oosterhof, Irene J Chang, Ehsan Ghayoor Karimiani, et al.Genetics in Medicine Open|October 18, 2024
3-hour genome sequencing and targeted analysis to rapidly assess genetic riskMiranda Pg Zalusky, Jonas A Gustafson, Stephanie C Bohaczuk, et al.Journal of Inherited Metabolic Disease|January 31, 2023
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylationAn N Dang Do, Irene J Chang, Xutian Jiang, et al.Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.JAMA Neurology|August 30, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral SclerosisJanel O Johnson, Ruth Chia, Danny E Miller, et al.Pageof 3