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Genetic heterogeneity in osteogenesis imperfecta.
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group ofExpand
Implementation of structured physical activity in the pediatric stem cell transplantation.
TLDR
The implementation study showed the feasibility of supportive sports therapy in PBSCT and showed general acceptance of physical activity during PBSCT. Expand
Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis.
TLDR
This study was supported by the Ligue Suisse contre le Cancer (grants SKL 443-2-1997) and the Recherche Suisse (grant AKT 621) and was discussions for which Dr. Phil Shaw is thank for his discussions. Expand
[Rare diseases from a life insurance perspective].
TLDR
Due to the scarce availability of data regarding long-term prognosis of many rare diseases, a biomathematical, medical and actuarial expertise on the part of the insurer is necessary in order to adequately assess the risk of mortality and morbidity. Expand