Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
2.
Is nuchal translucency of 3.0-3.4 mm an indication for cfDNA testing or microarray? - a multicenter retrospective clinical cohort study.
Fetal Diagn Ther
; 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815555
3.
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Hum Genet
; 131(3): 513-23, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21975797
4.
Direct tandem duplication in chromosome 19q characterized by array CGH.
Eur J Med Genet
; 51(3): 257-63, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18342596
5.
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Eur J Hum Genet
; 23(12): 1615-26, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25853300