Disease: Fountain syndrome
- A Rare Case of Hao-Fountain Syndrome Mimicking Fragile X Syndrome
- Bezoar in a periampullary duodenal diverticulum causing pancreaticobiliary obstruction and ascending cholangitis
- Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants
- Disseminated histoplasmosis in an immunosuppressed patient successfully treated with isavuconazole
- DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
- DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
- Does Consumption of Ultra-Processed Foods Matter for Liver Health? Prospective Analysis among Older Adults with Metabolic Syndrome
- Endovascular therapy for Stanford B aortic dissection for patients with Marfan Syndrome: systematic review and meta-analysis
- Estimating the cost and efficiency gain of rolling out a multi-month dispensing programme for antiretroviral treatment in Tanzania
- Expansion of the mutation spectrum and phenotype of <em>USP7</em>-related neurodevelopmental disorder
- Fountain syndrome: further delineation of the clinical syndrome and follow-up data
- Hao-Fountain syndrome and genital disorders: report of a new possible association
- Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum
- Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome
- Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome
- Longitudinal association of dietary carbohydrate quality with visceral fat deposition and other adiposity indicators
- Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome
- Microbial Phenolic Metabolites in Urine Are Inversely Linked to Certain Features of Metabolic Syndrome in Spanish Adolescents
- Patient selection and injection techniques for botulinum neurotoxin in oromandibular dystonia
- Presentation, management, and outcomes of cauda equina syndrome up to one year after surgery, using clinician and participant reporting: A multi-centre prospective cohort study
- Relationship between estimated desaturase enzyme activity and metabolic syndrome in a longitudinal study
- The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway
- The Humanistic Approach to Aging and the Plastic Surgeon's Role
- Water intake, hydration status and 2-year changes in cognitive performance: a prospective cohort study