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American Journal of Medical Genetics|April 29, 1998
Chromosome 18q paracentric inversion in a family with mental retardation and hearing lossK M Keppler-Noreuil, A J Carroll, S C Finley, et al.
The American Journal of Surgical Pathology|December 10, 2025
Characterizing Paratesticular Neoplasms in Proteus SyndromeAndres Matoso, Russell Vang, Deyin Xing, et al.
Annals of the American Thoracic Society|July 15, 2022
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical TrialKim M Keppler-Noreuil, Jasmine Burton-Akright, David E Kleiner, et al.
The Knee|March 7, 2021
Three-dimensional assessment of patellofemoral anatomy: Reliability and reference rangesJ Fürmetz, T Daniel, J Sass, et al.
American Journal of Medical Genetics. Part A|October 23, 2018
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndromeVarun Takyar, Divya Khattar, Alexander Ling, et al.
Journal of Pediatric Orthopedics|January 13, 2018
Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case SeriesMolly M Crenshaw, Cara G Goerlich, Lauren E Ivey, et al.
Journal of Epidemiology and Community Health|June 22, 2016
Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007April L Dawson, Sarah C Tinker, Denise J Jamieson, et al.
American Journal of Human Genetics|August 18, 2015
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen SyndromeJennifer J Johnston, Monica Y Sanchez-Contreras, Kim M Keppler-Noreuil, et al.
American Journal of Medical Genetics. Part A|January 6, 2015
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluationKim M Keppler-Noreuil, Jonathan J Rios, Victoria E R Parker, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|November 27, 2014
Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trialsSonja A Rasmussen, Sonia Hernandez-Diaz, Omar A Abdul-Rahman, et al.
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