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American Journal of Human Genetics|May 18, 2004
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type MaroteauxCynthia F Bartels, Hulya Bükülmez, Pius Padayatti, et al.
Gene & Protein in Disease|May 20, 2024
Identification of stress-induced epigenetic methylation onto dopamine D2 gene and neurological and behavioral consequencesKenneth Blum, Abdalla Bowirrat, David Baron, et al.
Journal of Proteome Research|September 6, 2013
Immunodepletion plasma proteomics by tripleTOF 5600 and Orbitrap elite/LTQ-Orbitrap Velos/Q exactive mass spectrometersKelly A Jones, Phillip D Kim, Bhavinkumar B Patel, et al.
Transfusion|January 22, 2024
Novel method for determining when a field-collected donor unit is sufficiently fullMark H Yazer, Kendall Werneiwski, Patrick Thompson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterationsEllen S Regalado, Lauren Mellor-Crummey, Julie De Backer, et al.
Neurology (E-Cronicon)|December 29, 2025
Neurospirituality Connectome - Role in Neurology and Reward Deficiency Syndrome (RDS)Kenneth Blum, Eric R Braverman, Milan Makale, et al.
The Journal of Trauma and Acute Care Surgery|August 2, 2022
Developing a National Trauma Research Action Plan: Results from the postadmission critical care research gap Delphi surveyKaren J Brasel, Maxwell A Braverman, Jimmy Phuong, et al.
Nature Genetics|July 10, 2012
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysmMark E Lindsay, Dorien Schepers, Nikhita Ajit Bolar, et al.
American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
Circulation|November 2, 2022
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice GuidelinesEric M Isselbacher, Ourania Preventza, James Hamilton Black, et al.
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