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.
Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.
Muscle Nerve
; 55(5): 756-760, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27669550
3.
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability.
Genes (Basel)
; 14(4)2023 04 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37107643
4.
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