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Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|November 19, 2025
Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulationJessica P Hayes, Velda X Han, Brooke A Keating, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseLisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Internal Medicine Journal|September 10, 2021
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendationsCarolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic, et al.
Internal Medicine Journal|March 13, 2026
An Australian standard of care for Niemann-Pick disease type CMichel Tchan, Nicholas Smith, Heidi Peters, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersLisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Journal of Inherited Metabolic Disease|February 20, 2024
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiencyDenise Aldrian, Birgit Waldner, Georg F Vogel, et al.
Human Mutation|July 12, 2020
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, et al.
Molecular Genetics and Metabolism|July 18, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus studyNathalie Guffon, Barbara K Burton, Can Ficicioglu, et al.
Plos One|February 6, 2016
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available EvidenceAmanda Jefferson, Helen Leonard, Aris Siafarikas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
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