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American Journal of Medical Genetics. Part A|April 23, 2015
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactylyEdward D Esplin, Hassan Chaib, Michael Haney, et al.The Journal of Dermatological Treatment|September 1, 2016
Patient-reported impact of chronic urticaria compared with psoriasis in theUnited StatesMeryl H Mendelson, Jonathan A Bernstein, Susan Gabriel, et al.The American Journal of Emergency Medicine|January 15, 2020
Emergency department evaluation of patients with angiotensin converting enzyme inhibitor associated angioedemaPhilip A Mudd, Edmond A Hooker, Uwe Stolz, et al.Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology|November 25, 2023
Hereditary angioedema outcomes in US patients switched from injectable long-term prophylactic medication to oral berotralstatMarc A Riedl, Daniel Soteres, J Wesley Sublett, et al.Journal of Pharmaceutical and Biomedical Analysis|January 3, 2021
A robust multiplexed assay to quantify C1-inhibitor, C1q, and C4 proteins for in vitro diagnosis of hereditary angioedema from dried blood spotYongquan Lai, Guodong Zhang, Neil Inhaber, et al.Scientific Reports|June 3, 2017
Isolated Congenital Anosmia and CNGA2 MutationM Reza Sailani, Inlora Jingga, Seyed Hashem MirMazlomi, et al.The Journal of Allergy and Clinical Immunology. Global|December 9, 2024
Subtype prevalence and treatment implication in adolescents and adults with mild-to-moderate asthma: Systematic review and meta-analysisChamard Wongsa, Pakpoom Wongyikul, Piyaporn Chokevittaya, et al.Dermatology and Therapy|February 28, 2025
Urticaria Voices: Real-World Experience of Patients Living with Chronic Spontaneous UrticariaKarsten Weller, Tonya Winders, Jessica McCarthy, et al.Pediatric Neurology|November 27, 2022
A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related DisorderRebecca J Levy, Katherine W Timothy, Jack F G Underwood, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritizationKarthik A Jagadeesh, Johannes Birgmeier, Harendra Guturu, et al.Pageof 62