Detalhe da pesquisa
1.
Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.
BMC Bioinformatics
; 22(1): 181, 2021 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33832433
2.
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Genet Med
; 23(10): 1882-1888, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040190
3.
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
J Med Genet
; 56(7): 444-452, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842225
4.
Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
HGG Adv
; 3(1): 100062, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051255
5.
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
HGG Adv
; 1(1): 100009, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047831