Detalhe da pesquisa
1.
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Am J Med Genet A
; 194(6): e63544, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258498
2.
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
J Hum Genet
; 65(12): 1115-1123, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737394