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Ophthalmic Genetics|December 14, 2023
Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed diseaseLawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, et al.Journal of Cardiovascular Development and Disease|August 27, 2025
Echocardiographic Assessment of Pulmonary Hemodynamics and Right Ventricular Performance in Neonatal Murine HypoxiaKel Vin Woo, Philip T Levy, Carla J Weinheimer, et al.Intensive Care Medicine|July 8, 2009
Decreased surfactant phosphatidylcholine synthesis in neonates with congenital diaphragmatic hernia during extracorporeal membrane oxygenationDaphne J Janssen, Luc J Zimmermann, Paola Cogo, et al.Human Mutation|March 21, 2020
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variantsJune Y Hu, Ping Yang, Daniel J Wegner, et al.Journal of Lipid Research|March 18, 2005
Metabolic kinetics of pulmonary surfactant in newborn infants using endogenous stable isotope techniquesKajsa Bohlin, Bruce W Patterson, Kimberly L Spence, et al.Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography|September 20, 2016
Pulmonary Artery Acceleration Time Provides a Reliable Estimate of Invasive Pulmonary Hemodynamics in ChildrenPhilip T Levy, Meghna D Patel, Georgeann Groh, et al.American Journal of Medical Genetics. Part A|May 21, 2014
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Avinash V Dharmadhikari, Jennifer A Wambach, et al.The Journal of Steroid Biochemistry and Molecular Biology|May 13, 2021
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)Sofia E Luna, Daniel J Wegner, Sarah Gale, et al.BMC Genetics|October 22, 2018
Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birthAaron Hamvas, Rui Feng, Yingtao Bi, et al.The Journal of Pediatrics|September 11, 2017
Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B DeficiencyJuan A López-Andreu, Antonio D Hidalgo-Santos, Miguel A Fuentes-Castelló, et al.Pageof 22