Detalhe da pesquisa
1.
Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.
Fetal Pediatr Pathol
; 42(6): 979-989, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37747279
2.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Neurogenetics
; 22(1): 19-25, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816121
3.
Droplet digital PCR is a sensitive tool for the detection of TP53 deletions and point mutations in chronic lymphocytic leukaemia.
Br J Haematol
; 189(2): e49-e52, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943144
4.
Recurrent duplications of 17q12 associated with variable phenotypes.
Am J Med Genet A
; 167A(12): 3038-45, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420380
5.
Dropped-head in recessive oculopharyngeal muscular dystrophy.
Neuromuscul Disord
; 25(11): 869-72, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26494409
6.
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
PLoS One
; 8(2): e56599, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23468869