Detalhe da pesquisa
1.
Tremor is a major feature of 9p13 deletion syndrome.
Am J Med Genet A
; 182(11): 2694-2698, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32896075
2.
Genomic characterization of three urinary bladder cancer cell lines: understanding genomic types of urinary bladder cancer.
Tumour Biol
; 35(5): 4599-617, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24459064
3.
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency.
Acta Med Port
; 34(9): 580-585, 2021 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33118925
4.
Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.
Mol Cytogenet
; 8: 103, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26719768
5.
Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.
Gene
; 527(1): 421-5, 2013 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23792063
6.
Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.
Mol Cytogenet
; 5(1): 25, 2012 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22550961