Detalhe da pesquisa
1.
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
BMC Med Genet
; 16: 61, 2015 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26285866
2.
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.
Mol Ther Methods Clin Dev
; 17: 337-348, 2020 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071926
3.
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Eur J Hum Genet
; 27(6): 919-927, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737479
4.
A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
Eur J Hum Genet
; 20(9): 986-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22395867
5.
Complete FXN deletion in a patient with Friedreich's ataxia.
Genet Test Mol Biomarkers
; 16(9): 1015-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22691228