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Prenatal Diagnosis|December 13, 2000
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinityL C Horn, R Faber, A Meiner, et al.
Calcified Tissue International|January 1, 1992
Osteogenesis imperfecta: a clinical study of the first ten years of lifeU Vetter, B Pontz, E Zauner, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|September 17, 2017
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution patternT Rolvien, U Kornak, J Stürznickel, et al.
Journal of Medical Genetics|December 24, 2005
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17pS Türkmen, O Demirhan, K Hoffmann, et al.
American Journal of Medical Genetics. Part A|May 12, 2005
Autosomal dominant inheritance of spondyloenchondrodysplasiaR Bhargava, N J Leonard, A K J Chan, et al.
Medizinische Klinik (Munich, Germany : 1983)|March 1, 1995
[TNF-alpha level in the vitreous body. Increase in neovascular eye diseases and proliferative diabetic retinopathy]J Spranger, R Meyer-Schwickerath, M Klein, et al.
European Journal of Pediatrics|March 1, 1982
Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasiaH Stöss, H J Pesch, B Pontz, et al.
Folia Biologica|May 25, 2010
Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutationF Liska, P Snajdr, S Stricker, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|March 17, 1999
Deficient activation and different expression of transforming growth factor-beta isoforms in active proliferative diabetic retinopathy and neovascular eye diseaseJ Spranger, R Meyer-Schwickerath, M Klein, et al.
Enzyme|January 1, 1987
Lysosomal sialidase deficiency: increased ganglioside content in autopsy tissues of a sialidosis patientB Ulrich-Bott, B Klem, R Kaiser, et al.
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