Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35202563
2.
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Mol Cell
; 59(6): 956-69, 2015 Sep 17.
Artigo
Inglês
| MEDLINE | ID: mdl-26365382
3.
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Am J Med Genet C Semin Med Genet
; 181(4): 532-547, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31736240
4.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30679821
5.
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Pediatr Neurol
; 147: 154-162, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37619436
6.
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Sci Adv
; 9(17): eade0631, 2023 04 28.
Artigo
Inglês
| MEDLINE | ID: mdl-37126546
7.
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Nat Commun
; 12(1): 2678, 2021 05 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33976153
8.
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
Pediatr Res
; 68(2): 159-64, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20453710