Detalhe da pesquisa
1.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
2.
Five siblings expand the spectrum of GPC6-related skeletal dysplasia.
Am J Med Genet A
; 191(10): 2571-2577, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353964
3.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830
4.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Genes (Basel)
; 13(1)2022 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052493