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American Journal of Medical Genetics|March 10, 2001
Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literatureD Baumgartner, I Gassner, W Sperl, et al.Helvetica Paediatrica Acta|May 1, 1984
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemiaB Steinmann, H E Gnehm, V H Rao, et al.The Biochemical Journal|November 1, 1991
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitutionB Steinmann, A Westerhausen, C D Constantinou, et al.American Journal of Human Genetics|March 1, 1991
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IVB Lee, M D'Alessio, H Vissing, et al.Journal of Inherited Metabolic Disease|November 13, 2007
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarkerP Paesold-Burda, M R Baumgartner, R Santer, et al.European Radiology|April 18, 2002
Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlationT A G M Huisman, T Thiel, B Steinmann, et al.European Journal of Pediatrics|March 1, 1990
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfectaF Pendola, C Borrone, M Filocamo, et al.Oxidative Medicine and Cellular Longevity|July 12, 2013
Natural antioxidant activity of commonly consumed plant foods in India: effect of domestic processingD Sreeramulu, C V K Reddy, Anitha Chauhan, et al.Veterinary and Comparative Orthopaedics and Traumatology : V.C.O.T|March 6, 2013
Defect nonunion of a metatarsal bone fracture in a cow: successful management with bone plating and autogenous cancellous bone graftM Raghunath, N Singh, T Singh, et al.Journal of Tissue Engineering and Regenerative Medicine|May 4, 2012
In vitro evaluation of Ficoll-enriched and genipin-stabilised collagen scaffoldsA Satyam, G S Subramanian, M Raghunath, et al.Pageof 23