ライフサイエンスコーパス: epidermolysis bullosa simplex

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1 r dystrophy associated with skin blistering (epidermolysis bullosa simplex).

2 e motif have been described in patients with epidermolysis bullosa simplex.

3 vidence of phenotype-genotype correlation in epidermolysis bullosa simplex.

4 mutations in either of these genes can cause epidermolysis bullosa simplex.

5 g seen in the genetic disorder Dowling-Meara epidermolysis bullosa simplex.

6 al trials of bone marrow transplantation for epidermolysis bullosa simplex.

7 d in skin lead to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperker

8 Epidermolysis bullosa simplex are dominant disorders of

9 Epidermolysis bullosa simplex associated with late-onset

10 In epidermolysis bullosa simplex associated with plectin mu

11 Epidermolysis bullosa simplex Dowling-Meara (MIM# 131760

12 dy we sequenced these genes in a family with epidermolysis bullosa simplex Dowling-Meara.

13 Through studies that began with epidermolysis bullosa simplex (EBS) and now extend to a

14 Epidermolysis bullosa simplex (EBS) is a group of autoso

15 Importance: Epidermolysis bullosa simplex (EBS) is a group of clinic

16 Epidermolysis bullosa simplex (EBS) is a mechano-bullous

17 Epidermolysis bullosa simplex (EBS) is a rare genetic co

18 Epidermolysis bullosa simplex (EBS) is a rare inherited

19 Epidermolysis bullosa simplex (EBS) is an incurable, inh

20 Epidermolysis bullosa simplex (EBS) is an inherited skin

21 The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominan

22 Mutations in K5 or K14 genes cause epidermolysis bullosa simplex (EBS), a disorder with bli

23 The best-studied skin fragility disorder is epidermolysis bullosa simplex (EBS), an autosomal domina

24 One such disease is epidermolysis bullosa simplex (EBS), caused by mutations

25 ins keratin 5 (K5) or keratin 14 (K14) cause epidermolysis bullosa simplex (EBS), in which basal laye

26 junctions (NMJs) in patients suffering from epidermolysis bullosa simplex (EBS)-muscular dystrophy (

27 ns 5 or 14 are implicated in the etiology of epidermolysis bullosa simplex (EBS).

28 The Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) is a severe blist

29 ing disorders, epidermolytic hyperkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplanta

30 e K5 head domain residue T150 in cytoplasmic epidermolysis bullosa simplex granules containing R125C

31 The severe Dowling-Meara form of epidermolysis bullosa simplex is caused by dominant-nega

32 istic feature of the skin blistering disease epidermolysis bullosa simplex is keratin filament (KF) n

33 To date, mutant-specific siRNAs for epidermolysis bullosa simplex, pachyonychia congenita an

34 rmation and function with a possible role in epidermolysis bullosa simplex pathogenesis.

35 This is the second epidermolysis bullosa simplex patient reported with a pr

36 We report an epidermolysis bullosa simplex patient with a novel singl

37 Mutations in epidermolysis bullosa simplex patients could interfere w

38 common mutation in the Dowling-Meara form of epidermolysis bullosa simplex patients is the missense m

39 models that more faithfully recapitulate the epidermolysis bullosa simplex phenotype, is advisable be

40 the palmoplantar distribution seen in other epidermolysis bullosa simplex subtypes, extensive herpet

41 7600) is the most severe of the three common epidermolysis bullosa simplex subtypes.

42 cal vitelliform macular dystrophy (VMD1) and epidermolysis bullosa simplex, type Ogna (EBS1).

43 plantation could be applied to patients with epidermolysis bullosa simplex with intraepidermal bliste

44 utation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate e

45 everal distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation

46 ents suffering from plectinopathy-associated epidermolysis bullosa simplex with muscular dystrophy (E

47 skin from patients with autosomal recessive epidermolysis bullosa simplex with plectin defects (n =

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