Detalhe da pesquisa
1.
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Am J Hum Genet
; 103(4): 621-630, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290154
2.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Am J Hum Genet
; 101(1): 139-148, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686853
3.
The different clinical facets of SYN1-related neurodevelopmental disorders.
Front Cell Dev Biol
; 10: 1019715, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36568968
4.
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
Neurol Genet
; 5(2): e565, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192300
5.
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Neurol Genet
; 5(6): e369, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042905