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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.
Preventive Medicine|October 3, 2022
Equitable implementation of S.A.F.E. Firearm: A multi-method pilot studyKatelin Hoskins, Kristin A Linn, Brian K Ahmedani, et al.
Journal of Community Genetics|March 31, 2019
Linking pre-existing biorepositories for medical research: the PopGen 2.0 NetworkWolfgang Lieb, Gunnar Jacobs, Andreas Wolf, et al.
BMJ Open|November 23, 2022
Investigating transmission of SARS-CoV-2 using novel face mask sampling: a protocol for an observational prospective study of index cases and their contacts in a congregate settingThomas Jaenisch, Molly M Lamb, Emily N Gallichotte, et al.
Plos Biology|April 29, 2024
The C-terminus of the prototypical M2 muscarinic receptor localizes to the mitochondria and regulates cell respiration under stress conditionsIrene Fasciani, Francesco Petragnano, Ziming Wang, et al.
Frontiers in Rehabilitation Sciences|October 24, 2022
Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemicPooja Vedmurthy, Connor Murray, Belinda Chen, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.
American Journal of Human Genetics|June 5, 2013
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosisJohn A Martignetti, Lifeng Tian, Dong Li, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 29, 2018
Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibitionFlorian A Siebzehnrübl, Kerstin A Raber, Yvonne K Urbach, et al.
Open Forum Infectious Diseases|June 8, 2026
Long-term Sequelae Associated With Severe West Nile Virus Disease in Maricopa County, Arizona, 2021Anna C Fagre, Kathryn G Burr, Cedar L Mitchell, et al.
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