Detalhe da pesquisa
1.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273809
2.
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
BMC Med Genet
; 19(1): 118, 2018 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30021525
3.
Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.
Cytogenet Genome Res
; 147(2-3): 111-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26669311
4.
Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.
Europace
; 13(1): 130-2, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20851825
5.
Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.
J Med Case Rep
; 12(1): 322, 2018 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371346
6.
Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.
Gene
; 628: 190-193, 2017 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28694206
7.
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.
Pediatr Rheumatol Online J
; 15(1): 72, 2017 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28950892