Detalhe da pesquisa
1.
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Am J Med Genet A
; 194(7): e63580, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511524
2.
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
J Clin Immunol
; 42(6): 1310-1320, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670985
3.
GRM7-related disorder: five additional patients from three independent families and review of the literature.
Eur J Med Genet
; 67: 104893, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38070825
4.
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Epilepsia Open
; 9(3): 951-959, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544349
5.
Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly.
Front Neurol
; 14: 1124886, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36846113
6.
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Andrology
; 10(8): 1625-1631, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36026611
7.
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Mol Diagn Ther
; 25(3): 373-385, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33954932
8.
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?
DNA Cell Biol
; 40(3): 491-498, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493017