Detalhe da pesquisa
1.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Am J Hum Genet
; 91(2): 337-42, 2012 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22840363
2.
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.
Exp Dermatol
; 22(4): 251-4, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23528209
3.
Small RNAs encoded within genetic islands of Salmonella typhimurium show host-induced expression and role in virulence.
Nucleic Acids Res
; 36(6): 1913-27, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18267966
4.
Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
Nat Genet
; 48(12): 1508-1516, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27798626
5.
Semidominant inheritance in epidermolytic ichthyosis.
J Invest Dermatol
; 133(11): 2626-2628, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23604102
6.
Digenic inheritance in epidermolysis bullosa simplex.
J Invest Dermatol
; 132(12): 2852-4, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22832485