Detalhe da pesquisa
1.
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
Clin Genet
; 104(2): 245-250, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125481
2.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
3.
Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain.
Genes (Basel)
; 15(5)2024 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790198