Detalhe da pesquisa
1.
New microdeletion and microduplication syndromes: A comprehensive review.
Genet Mol Biol
; 37(1 Suppl): 210-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24764755
2.
16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
Genes (Basel)
; 14(8)2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628634
3.
Targeting DNA topoisomerases or checkpoint kinases results in an overload of chaperone systems, triggering aggregation of a metastable subproteome.
Elife
; 112022 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35200138
4.
A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.
Eur J Med Genet
; 64(11): 104319, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34474176
5.
Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
Neuromolecular Med
; 22(1): 133-138, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587151
6.
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
Mol Neurobiol
; 56(9): 6426-6435, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30820861
7.
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.
Biomed Res Int
; 2018: 5436187, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721507
8.
Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.
Biomed Res Int
; 2015: 401941, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26137477
9.
Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil
Clin. biomed. res
; 34(4): 357-365, 2014. ilus, tab
Artigo
em Inglês
| LILACS | ID: biblio-834483