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European Journal of Human Genetics : EJHG|January 1, 1996
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicismA M Lund, M Schwartz, M Raghunath, et al.European Journal of Pediatrics|May 1, 1985
Anomalous eosinophil granulocytes in blood and bone marrow: a diagnostic marker for infantile GM1-gangliosidosis?R Gitzelmann, M A Spycher, S Adank, et al.The Journal of Biological Chemistry|January 25, 1989
Decreased thermal denaturation temperature of osteogenesis imperfecta mutant collagen is independent of post-translational overmodifications of lysine and hydroxylysineV H Rao, B Steinmann, W de Wet, et al.Klinische Monatsblatter Fur Augenheilkunde|December 1, 1986
[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]S Lalive d'Epinay, S Rampini, U Arbenz, et al.American Journal of Medical Genetics. Part A|September 19, 2009
Mandibuloacral dysplasia type A in childhoodL Garavelli, M R D'Apice, F Rivieri, et al.Nature Genetics|November 14, 1997
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndromeR Santer, R Schneppenheim, A Dombrowski, et al.American Journal of Medical Genetics|May 3, 1996
Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding?G F Eich, B Steinmann, J Hodler, et al.American Journal of Medical Genetics|April 29, 1998
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)P Beighton, A De Paepe, B Steinmann, et al.Clinical Rheumatology|March 24, 1999
Type I osteogenesis imperfecta: diagnostic difficultiesH Bischoff, P Freitag, G Jundt, et al.Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|October 18, 2002
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactylyN Kölble, J Wisser, D Babcock, et al.Pageof 25