Shodair Children's Hospital

Recent papers from Shodair Children's Hospital

1. Impact of chronic portable screen use on auditory processing in working adults: A pilot cross-sectional studyThe Egyptian Journal of Otolaryngology · 2026
2. Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural YouthClinical Pharmacology & Therapeutics · 2026
3. The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome.2025
4. Non‐Mosaic Trisomy 9: Further Delineation of the Clinical PhenotypeAmerican Journal of Medical Genetics Part A · 2025
5. Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderGenetics in Medicine Open · 2025
6. Konaway Nika Tillicum Native Youth Academy: Enacting a medicine wheel educational framework.Cultural Diversity & Ethnic Minority Psychology · 2024
7. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individualsEuropean Journal of Human Genetics · 2024
8. Personal journeys to and in human genetics and dysmorphologyAmerican Journal of Medical Genetics Part A · 2024
9. Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disabilityClinical Genetics · 2023
10. Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1Journal of Inherited Metabolic Disease · 2023
11. Ion Channels in Gliomas—From Molecular Basis to Treatment科学咨询 · 2023
12. Ensuring equity: Pharmacogenetic implementation in rural and tribal communitiesFrontiers in Pharmacology · 2022
13. Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approachMolecular Genetics and Metabolism · 2020
14. N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiencyJournal of Inherited Metabolic Disease · 2020
15. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh diseaseJournal of Inherited Metabolic Disease · 2020
16. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsHuman Mutation · 2019
17. Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patientsJournal of Inherited Metabolic Disease · 2019
18. Philip D. Pallister of MontanaAmerican Journal of Medical Genetics Part A · 2018
19. A Retrospective Multicenter Evaluation of Clozapine Use in Pediatric Patients Admitted for Acute Psychiatric HospitalizationJournal of Child and Adolescent Psychopharmacology · 2018
20. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndromeGenetics in Medicine · 2018