Detalhe da pesquisa
1.
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
J Clin Immunol
; 36(2): 117-22, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26801501
2.
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Nat Genet
; 38(2): 191-6, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16415887
3.
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Am J Hum Genet
; 86(3): 471-8, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206334
4.
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).
PLoS Genet
; 5(3): e1000423, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19300480
5.
Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
J Clin Immunol
; 36(3): 336-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26941167
6.
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
Mol Vis
; 16: 650-64, 2010 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20405026