Results 121 to 130 of about 1,602 (170)
Prevalence of lethal osteochondrodysplasias
American Journal of Medical Genetics Part A, 1990 Martina Cornel, L P Ten Kate
exaly +7 more sources
Mucopolysaccharides in osteochondrodysplasias
Clinical Genetics, 1979 Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita.
G L, Francis, E, Feng, O M, Rennert
openaire +3 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Prevalence of lethal osteochondrodysplasias in Denmark
American Journal of Medical Genetics Part A, 1989AbstractThe point prevalence at birth of lethal osteochondrodysplasias in a subregion of Denmark was estimated by a study of all children born January 1970 through December 1983. Two cases of thanatophoric dysplasia, one case of thanatophoric dysplasia with cloverleaf skull, two cases of micromelic bone dysplasia with cloverleaf skull, two cases of ...
exaly +3 more sources
Ultrastructural aspects of osteochondrodysplasias
, 1990 The literature on osteochondrodysplasias is voluminous and a multitude of conflicting classifications has developed over the years. Eponyms proliferated and identical syndromes were described under multiple headings, whereas dissimilar disorders were treated as one. Even the newest methods of investigation frequently fail to reveal clear-cut boundaries
Ernesto Ippolito +3 more
openaire +2 more sources
American Journal of Medical Genetics, Part A, 2008 The osteochondrodysplasia or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal diagnosis.
Deborah Krakow, Yasemin Alanay
exaly +2 more sources