Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Yujen E, Hsia"'
Autor:
Kerri M, Carlson, Karen M, Yamaga, Kent A, Reinker, Yujen E, Hsia, Clyde, Carpenter, Lucienne M, Abe, Andrea K, Perry, Donald A, Person, Douglas A, Marchuk, Ellen M, Raney
Publikováno v:
The Journal of rheumatology. 33(6)
To examine the genotypic and phenotypic characteristics of a Micronesian kindred with autosomal dominant precocious osteoarthritis (OA).We reviewed records and radiographs of 3 index patients and their parents, administered questionnaires to 16 addit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::87a1807560c33f670e8f3ec5e771eb68
https://pubmed.ncbi.nlm.nih.gov/16755660
https://pubmed.ncbi.nlm.nih.gov/16755660
Publikováno v:
Biochemical Medicine. 20:1-6
A method is presented for the detection of propionyl-CoA carboxylase activity from crude extracts of human, mouse, or hamster fibroblasts after electrophoresis on cellulose acetate gel. When a radioactive assay employing scintillation counting or aut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::648bf1270cdc2b4dca2c533feb93b972
https://doi.org/10.1016/0006-2944(78)90043-1
https://doi.org/10.1016/0006-2944(78)90043-1
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 88(1)
The Meckel syndrome is a genetically determined (autosomal recessive) disease with major developmental abnormalities incompatible with life. The ocular manifestations include cryptophthalmos, clinical anophthalmos, microphthalmos, sclerocornea, micro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4395ae2a1755065eb39c1f005e682c09
https://pubmed.ncbi.nlm.nih.gov/4626079
https://pubmed.ncbi.nlm.nih.gov/4626079
Publikováno v:
The Journal of pediatrics. 76(6)
Three infants with signs of increased intracranial pressure in association with galactosemia are reported. The presence of a bulging fontanelle initially suggested other diagnostic possibilities, and led to the loss of valuable time before the correc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::368ae802f1e3cf45ffb9dcd7f008078c
https://pubmed.ncbi.nlm.nih.gov/5444582
https://pubmed.ncbi.nlm.nih.gov/5444582