ライフサイエンスコーパス: chondrodysplasia punctata

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 mith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata, and cerebrotendinous xanthoma

5 including Zellweger syndrome and rhizomelic chondrodysplasia punctata are caused by genetic defects

6 phy, infantile Refsum disease and rhizomelic chondrodysplasia punctata are progressive disorders char

7 Chondrodysplasia punctata (CDP) is a rare, heterogeneous

8 rant punctate calcification in cartilage, or chondrodysplasia punctata (CDP).

9 may be homologous to human X-linked dominant chondrodysplasia punctata (CDPX2) and incontinentia pigm

10 ozygous females with human X-linked dominant chondrodysplasia punctata (CDPX2, alternatively known as

11 dentified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolos

12 ping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysp

13 Rhizomelic chondrodysplasia punctata (RCDP) is a developmental diso

14 Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders

15 Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal rec

16 The rhizomelic form of chondrodysplasia punctata (RCDP) is an autosomal recessi

17 ects in the human protein causing rhizomelic chondrodysplasia punctata (RCDP), a severe, lethal perox

18 oxisome biogenesis disorder (PBD) rhizomelic chondrodysplasia punctata (RCDP).

19 erved in cells from patients with rhizomelic chondrodysplasia punctata, Refsum disease, X-linked adre

20 Determining the etiology of chondrodysplasia punctata requires performing various ba

21 , whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1).

22 erolosis, lathosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), congenital hem

23 erolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidys

WebLSDに未収録の専門用語（用法）は "新規対訳" から投稿できます。