Detalhe da pesquisa
1.
New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease.
BMC Gastroenterol
; 20(1): 95, 2020 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32264837
2.
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene.
Am J Med Genet A
; 161A(5): 1091-5, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463737
3.
A novel mutation in the ß-spectrin gene causes the activation of a cryptic 5'-splice site and the creation of a de novo 3'-splice site.
Hum Genome Var
; 2: 15029, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-27081538
4.
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
Eur J Hum Genet
; 23(5): 663-71, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118026