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Clinics in Dermatology|September 25, 2020
Café au lait spots: When and how to pursue their genetic originsLeah Lalor, Olivia M T Davies, Donald Basel, et al.Cancer Genetics|December 22, 2023
Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literatureTessa Gonzalez, Qian Nie, Lubna N Chaudhary, et al.Clinical Genetics|July 31, 2020
Compound heterozygous splicing CDON variants result in isolated ocular colobomaLinda M Reis, Donald Basel, Julie McCarrier, et al.Gait & Posture|February 18, 2024
The association of pain with gait spatiotemporal parameters in children with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorderHyo-Jung Jeong, Joyce M Engel, Michael Muriello, et al.The Journal of Pediatrics|August 7, 2016
Benign Joint Hypermobility Minimally Impacts Autonomic Abnormalities in Pediatric Subjects with Chronic Functional Pain DisordersGisela Chelimsky, Katja Kovacic, Pippa Simpson, et al.Physical & Occupational Therapy in Pediatrics|January 17, 2023
Pain Characteristics and Symptom Management in Children with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum DisorderHyo-Jung Jeong, Joyce M Engel, Olivia Wilwert, et al.Genes|January 8, 2025
Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in <i>HCCS</i>-Related DiseaseLinda M Reis, Donald Basel, Pierre Bitoun, et al.JIMD Reports|May 13, 2024
Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotypeEmily Singh, Young-In Chi, Jessica Kopesky, et al.Journal of Biomechanics|June 8, 2024
Lower extremity inter-joint coupling angles and variability during gait in pediatric hypermobility spectrum disorderHyo-Jung Jeong, Sergey Tarima, Anthony Nguyen, et al.Pediatric Hematology and Oncology|August 20, 2019
Hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosisLarisa Broglie, Bernadette Vitola, Monica S Thakar, et al.Pageof 6