8時間前 -A number sign (#) is used with this entry because of evidence that Cousin syndrome is caused by homozygous mutation in the TBX15 gene (604127) on chromosome ...
15時間前 -Rhizomelic Chondrodysplasia Punctata Type 1. 1 variant in the PEX7 gene. Salla Disease. 1 variant in the SLC17A5 gene; relevant for Finnish, Swedish descent.
18時間前 -Pa- tients suffering from PBD show a broad spectrum of symptoms summarized as Zellweger spectrum disorders and rhizomelic chondrodysplasia punctata (RCDP) type ...
12時間前 -His top areas of expertise are polymyalgia rheumatica, rhizomelic pseudopolyarthritis, necrotizing. John magaldi also cooperates with other doctors and ...