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American Journal of Medical Genetics. Part A|August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid MosaicismRussell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
Annals of the American Thoracic Society|July 25, 2022
The Association between Exposures and Disease Characteristics in Familial Pulmonary FibrosisCarla R Copeland, Edwin F Donnelly, Mitra Mehrad, et al.
American Journal of Respiratory and Critical Care Medicine|March 11, 2014
Functional prostacyclin synthase promoter polymorphisms. Impact in pulmonary arterial hypertensionRobert S Stearman, Amber R Cornelius, Xiao Lu, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone SupplementationYutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
American Journal of Respiratory and Critical Care Medicine|February 4, 2020
Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung DiseaseMargaret L Salisbury, Justin C Hewlett, Guixiao Ding, et al.
Circulation|October 22, 2015
Estrogen Metabolite 16α-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular MetabolismXinping Chen, Megha Talati, Joshua P Fessel, et al.
Bioorganic & Medicinal Chemistry Letters|January 29, 2008
Pyrazinoindolone inhibitors of MAPKAP-K2D R Goldberg, Y Choi, D Cogan, et al.
Medrxiv : the Preprint Server for Health Sciences|October 14, 2024
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila modelsKristy L Jay, Nikhita Gogate, Kim Ezell, et al.
HGG Advances|November 1, 2025
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila modelsKristy L Jay, Nikhita Gogate, Paige I Hall, et al.
American Journal of Respiratory and Critical Care Medicine|January 9, 2023
The Genetic Landscape of Familial Pulmonary FibrosisQi Liu, Yuan Zhou, Joy D Cogan, et al.
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