Detalhe da pesquisa
1.
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Am J Hum Genet
; 103(5): 777-785, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30401459
2.
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Am J Hum Genet
; 99(2): 337-51, 2016 Aug 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27476653
3.
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Am J Hum Genet
; 99(6): 1292-1304, 2016 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27866708
4.
Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.
Acta Derm Venereol
; 97(7): 862-863, 2017 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28350042
5.
Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata.
J Invest Dermatol
; 138(3): 549-556, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29080678
6.
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
J Clin Invest
; 127(4): 1485-1490, 2017 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28287404