Detalhe da pesquisa
1.
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Hum Genomics
; 17(1): 102, 2023 Nov 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37968704
2.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35373813
3.
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Front Genet
; 13: 921324, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36147510
4.
Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis.
Radiol Case Rep
; 15(12): 2554-2556, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33082897