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Nature Genetics|October 20, 2009
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Torsten Pamminger, J Christopher Hennings, et al.Journal of Biomechanics|September 2, 2018
Effect of guided bone regeneration on bone quality surrounding dental implantsTrenton B Johnson, Ben Siderits, Seth Nye, et al.European Journal of Nuclear Medicine and Molecular Imaging|May 5, 2018
68Ga-PSMA-11 PET/CT-derived metabolic parameters for determination of whole-body tumor burden and treatment response in prostate cancerChristian Schmidkonz, Michael Cordes, Daniela Schmidt, et al.Clinical Nuclear Medicine|June 20, 2018
Assessment of Treatment Response by 99mTc-MIP-1404 SPECT/CT: A Pilot Study in Patients With Metastatic Prostate CancerChristian Schmidkonz, Michael Cordes, Michael Beck, et al.European Journal of Pediatrics|November 27, 2007
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapyJ Edmond Wraith, Maurizio Scarpa, Michael Beck, et al.Molecular Vision|December 5, 2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosaMaleeha Azam, Muhammad Imran Khan, Andreas Gal, et al.American Journal of Human Genetics|March 15, 2011
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine proteaseAndreas Gal, Isabella Rau, Leila El Matri, et al.Glycobiology|March 10, 2011
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunctionBu'hussain Hayee, Aristotelis Antonopoulos, Emma J Murphy, et al.Human Mutation|May 28, 2009
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidaseDoris Hofer, Karl Paul, Katrin Fantur, et al.Pediatrics|September 5, 2006
Enzyme-replacement therapy with agalsidase alfa in children with Fabry diseaseMarkus Ries, Joe T R Clarke, Catharina Whybra, et al.Pageof 31