Detalhe da pesquisa
1.
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Hum Mutat
; 38(1): 7-15, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667302
2.
Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.
Hum Mol Genet
; 21(13): 2889-98, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22451500
3.
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
Acta Paediatr
; 100(5): 780-3, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21138478
4.
RAG1 deficiency with a shifting B cell phenotype and chromosomal instability.
Clin Immunol
; 152(1-2): 65-7, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24583411
5.
Recurrent tendosynovitis as a rare manifestation of a lipid disorder.
J Clin Lipidol
; 13(1): 54-61, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459115
6.
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
Orphanet J Rare Dis
; 9: 116, 2014 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25330735
7.
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
Ann Clin Transl Neurol
; 1(12): 1024-35, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574476
8.
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
Nat Genet
; 43(2): 138-41, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21240277