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 the lethal skin blistering disorder Herlitz junctional epidermolysis bullosa.
2 well as extended family members at risk for junctional epidermolysis bullosa.
3 al-epidermal junction, diagnostic of Herlitz junctional epidermolysis bullosa.
4 sal keratinocyte integrity and resilience in junctional epidermolysis bullosa.
5 tion of hemidesmosomes was also perturbed in junctional epidermolysis bullosa.
6 gene/protein for mutations in some forms of junctional epidermolysis bullosa.
7 There is no established cure for junctional epidermolysis bullosa.
8 do so also in genetic skin diseases such as Junctional Epidermolysis Bullosa.
9 mis on a child who had a devastating form of junctional epidermolysis bullosa.
11 understanding the role of alpha 6 beta 4 in junctional epidermolysis bullosa, an often lethal human
12 the U.S. population carrier risk for Herlitz junctional epidermolysis bullosa and all variants of jun
13 treatment of hemophilia, tyrosinemia type I, junctional epidermolysis bullosa and type 1 diabetes.
14 the epidermis, similar to that seen in human junctional epidermolysis bullosa, and death occurs withi
15 lex, epidermolytic palmoplantar keratoderma, junctional epidermolysis bullosa, and dystrophic forms o
16 eshift variants causing AI in the absence of junctional epidermolysis bullosa, and highlights the sha
17 abnormalities underlying different forms of junctional epidermolysis bullosa appear to affect certai
18 ively in 76 patients with severe generalized junctional epidermolysis bullosa born in the years 2000-
19 ese patients did not have the lethal form of junctional epidermolysis bullosa but, as adults, display
21 f-function variants in LAMB3 cause recessive junctional epidermolysis bullosa, characterized by life-
23 d the LAMB3 gene for mutations in 22 Herlitz junctional epidermolysis bullosa families, and identifie
26 molysis bullosa, a usually nonlethal form of junctional epidermolysis bullosa, have generalized blist
29 type in some cases of the nonlethal forms of junctional epidermolysis bullosa involving abnormalities
30 type in some cases of the nonlethal forms of junctional epidermolysis bullosa involving abnormalities
41 dthrough in the DMS-114 cancer cell line and junctional epidermolysis bullosa (JEB) patient-derived k
42 cause substantial morbidity in patients with junctional epidermolysis bullosa (JEB), but the spectrum
46 ringing the total number of distinct Herlitz junctional epidermolysis bullosa mutations in LAMB3 to 3
48 ncidence of 1 of 150,000, severe generalized junctional epidermolysis bullosa occurred more often tha
50 utosomal recessive blistering skin disorder, junctional epidermolysis bullosa, particularly in the le
51 COL7A1 in the cDNA were detected, and in the junctional epidermolysis bullosa patients transcripts wi
53 ecessive dystrophic epidermolysis bullosa or junctional epidermolysis bullosa phenotypes but in whom
54 cessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa phenotypes in these fam
56 port on two patients with severe generalized junctional epidermolysis bullosa treated with allogeneic
57 enes in two patients with nonlethal forms of junctional epidermolysis bullosa using polymerase chain
58 enes in two patients with nonlethal forms of junctional epidermolysis bullosa using polymerase chain
59 olysis bullosa, a distinct nonlethal form of junctional epidermolysis bullosa, using polymerase chain
60 al epidermolysis bullosa and all variants of junctional epidermolysis bullosa was calculated to be on
64 from a syndrome resembling the human disease junctional epidermolysis bullosa with pyloric atresia (P
65 is study, we report a patient with a form of junctional epidermolysis bullosa with skin fragility and