戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 ions found in human patients with rhizomelic chondrodysplasia punctata.
2  peroxisome biogenesis, including rhizomelic chondrodysplasia punctata.
3  imaging findings of two newborn babies with chondrodysplasia punctata.
4 cient ether lipid biosynthesis in rhizomelic chondrodysplasia punctata and other disorders is associa
5 mith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata, and cerebrotendinous xanthoma
6 nylketonuria, propionic acidemia, rhizomelic chondrodysplasia punctata, and the Zellweger spectrum di
7  including Zellweger syndrome and rhizomelic chondrodysplasia punctata are caused by genetic defects
8 phy, infantile Refsum disease and rhizomelic chondrodysplasia punctata are progressive disorders char
9                                              Chondrodysplasia punctata (CDP) is a rare, heterogeneous
10 rant punctate calcification in cartilage, or chondrodysplasia punctata (CDP).
11 may be homologous to human X-linked dominant chondrodysplasia punctata (CDPX2) and incontinentia pigm
12 ozygous females with human X-linked dominant chondrodysplasia punctata (CDPX2, alternatively known as
13 dentified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolos
14 ping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysp
15                                   Rhizomelic chondrodysplasia punctata (RCDP) is a developmental diso
16                                   Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders
17                                   Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal rec
18                       The rhizomelic form of chondrodysplasia punctata (RCDP) is an autosomal recessi
19 ects in the human protein causing rhizomelic chondrodysplasia punctata (RCDP), a severe, lethal perox
20 oxisome biogenesis disorder (PBD) rhizomelic chondrodysplasia punctata (RCDP).
21 erved in cells from patients with rhizomelic chondrodysplasia punctata, Refsum disease, X-linked adre
22                  Determining the etiology of chondrodysplasia punctata requires performing various ba
23 , whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1).
24 erolosis, lathosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), congenital hem
25 erolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidys