Detalhe da pesquisa
1.
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
J Allergy Clin Immunol
; 137(6): 1780-1787, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26915675
2.
Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.
J Pediatr Gastroenterol Nutr
; 60(3): 352-6, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25714577
3.
Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
Arthritis Rheumatol
; 67(1): 288-95, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25220867
4.
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
Neuromuscul Disord
; 24(4): 353-9, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24461433
5.
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
Nat Genet
; 45(1): 76-82, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23202124