Detalhe da pesquisa
1.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Am J Hum Genet
; 104(4): 709-720, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905399
2.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
3.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Clin Genet
; 97(6): 890-901, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266967
4.
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Am J Hum Genet
; 95(5): 579-83, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439098
5.
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Cold Spring Harb Mol Case Stud
; 3(6)2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29162653