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Journal of Perinatology : Official Journal of the California Perinatal Association|September 12, 2018
In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathyShardha Srinivasan, Lisa W Howley, Bettina F Cuneo, et al.The Journal of Pediatrics|April 1, 2021
The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with Pulmonary Valve StenosisJanet M Bell, Ellen M Considine, Leslie M McCallen, et al.Pediatric Dermatology|March 9, 2026
Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility SyndromeSofia Guelfand Warnken, Jon Kibbie, Austin Larson, et al.Cardiology in the Young|March 19, 2021
Outcomes in hospitalisations of women with Turner syndrome compared to women without Turner syndromeIsani Singh, Lindsey M Duca, David Kao, et al.JACC. Case Reports|July 28, 2021
Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart FailureBibhuti B Das, Lazaro E Hernandez, Parul Jayakar, et al.Urology|December 10, 2022
Megacystis Associated With an Underlying ACTA2 Variant and Diagnosis of Multisystemic Smooth Muscle Dysfunction Syndrome: A Case ReportKestutis C Micke, Nicholas V Stence, Mariana L Meyers, et al.Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance|September 26, 2024
Assessment of abnormal transvalvular flow and wall shear stress direction for pediatric/young adults with bicuspid aortic valve: A cross-sectional four-dimensional flow studyTakashi Fujiwara, LaDonna J Malone, Kathryn C Chatfield, et al.The Journal of Pediatrics|May 23, 2022
Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan SyndromeTaizo A Nakano, Alexander W Rankin, Aparna Annam, et al.Plos One|October 21, 2014
Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndromeManinder Kaur, Kosuke Izumi, Alisha B Wilkens, et al.Journal of Molecular and Cellular Cardiology|June 18, 2014
Dysregulation of cardiolipin biosynthesis in pediatric heart failureKathryn C Chatfield, Genevieve C Sparagna, Carmen C Sucharov, et al.Pageof 4