Search Results - Stephen R. Braddock
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Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia by Rica Patil, DO, Jacquelyn Hunter, MD, Alan Knutsen, MD, Stephen R. Braddock, MD
Published in Journal of Allergy and Clinical Immunology: Global (2025-05-01)Get full text
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Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant by Timothy D. Gauntner, Manasa Karumuri, Miguel A. Guzman, Sara E. Starnes, Sherri Besmer, Hailey Pinz, Stephen R. Braddock, Teresa L. Andreone
Published in Clinical Case Reports (2021-03-01)Get full text
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Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants by Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer R. Friedman, Stephen R. Braddock, Sarah B. Neuhaus, Denise M. Malicki, Matthew N. Bainbridge, Shareef Nahas, David P. Dimmock, Stephen F. Kingsmore, Timothy E. Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann
Published in Annals of Clinical and Translational Neurology (2025-03-01)Get full text
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