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European Journal of Nuclear Medicine and Molecular Imaging|October 12, 2012
Comparison of lesion detection and quantitation of tracer uptake between PET from a simultaneously acquiring whole-body PET/MR hybrid scanner and PET from PET/CTMarco Wiesmüller, Harald H Quick, Bharath Navalpakkam, et al.Orphanet Journal of Rare Diseases|March 12, 2015
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, et al.RMD Open|November 28, 2025
Synovial fibroblast activation occurs before the onset of rheumatoid arthritis and influences the risk of developing diseaseArmin Atzinger, Koray Tascilar, Arnd Kleyer, et al.The Journal of Biological Chemistry|June 10, 2009
Rdh12 activity and effects on retinoid processing in the murine retinaJared D Chrispell, Kecia L Feathers, Maureen A Kane, et al.Neurogenetics|May 4, 2012
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genesClaudia Dufke, Nina Schlipf, Rebecca Schüle, et al.European Journal of Pediatrics|November 1, 2011
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensusJoseph Muenzer, Olaf Bodamer, Barbara Burton, et al.Journal of the American Society of Nephrology : JASN|April 10, 2009
Agalsidase alfa and kidney dysfunction in Fabry diseaseMichael West, Kathy Nicholls, Atul Mehta, et al.Clinical Nuclear Medicine|February 6, 2018
SPECT/CT With the PSMA Ligand 99mTc-MIP-1404 for Whole-Body Primary Staging of Patients With Prostate CancerChristian Schmidkonz, Michael Cordes, Michael Beck, et al.Orphanet Journal of Rare Diseases|June 9, 2012
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlationsAndreas Herzog, Ralf Hartung, Arnold J J Reuser, et al.Health and Quality of Life Outcomes|September 21, 2012
Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)Uma Ramaswami, Donald E Stull, Rossella Parini, et al.Pageof 31