Detalhe da pesquisa
1.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
2.
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Neurogenetics
; 14(2): 99-111, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23389741
3.
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
Am J Med Genet A
; 149A(5): 914-8, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19353629
4.
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
Case Rep Neurol Med
; 2016: 7627289, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28116189