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Journal of Child Neurology|July 11, 2007
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 childrenMargaret A K Glasmacher, V Reid Sutton, Bobbi Hopkins, et al.Molecular Genetics and Metabolism|July 12, 2017
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screeningMohammed Almannai, Ronit Marom, Kristian Divin, et al.Human Genetics|January 1, 2009
Non-random X chromosome inactivation in Aicardi syndromeTanya N Eble, V Reid Sutton, Haleh Sangi-Haghpeykar, et al.American Journal of Medical Genetics. Part A|April 6, 2026
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase DeficiencyAaron Williams, Kristian Divin, Lindsay C Burrage, et al.American Journal of Medical Genetics. Part A|September 25, 2020
Extremity anomalies associated with Robinow syndromeAmjed Abu-Ghname, Jeffrey Trost, Matthew J Davis, et al.The Journal of Pediatrics|November 26, 2015
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic DilemmaLindsay C Burrage, Marcus J Miller, Lee-Jun Wong, et al.Prenatal Diagnosis|November 9, 2002
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysisCatherine D Kashork, V Reid Sutton, Jill S Fonda Allen, et al.Orphanet Journal of Rare Diseases|January 31, 2019
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot studyLaura L Tosi, Marianne K Floor, Christina M Dollar, et al.American Journal of Medical Genetics. Part A|March 19, 2008
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndromeOleg A Shchelochkov, Ankita Patel, George M Weissenberger, et al.Journal of Clinical Psychology in Medical Settings|August 14, 2025
Mindful Self-Compassion to Reduce Pain Interference Among Adults with Osteogenesis ImperfectaAmena Sediqi, Roya Al-Khalili, Saunya Dover, et al.Pageof 18