Detalhe da pesquisa
1.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am J Hum Genet
; 99(3): 735-743, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545679
2.
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 10-20, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28990276
3.
Mutations in HECW2 are associated with intellectual disability and epilepsy.
J Med Genet
; 53(10): 697-704, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27334371
4.
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Am J Hum Genet
; 89(4): 507-15, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963049
5.
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.
Am J Med Genet A
; 164A(9): 2344-50, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24845202
6.
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
Neuromuscul Disord
; 16(12): 830-8, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17049859
7.
Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents.
Eur J Paediatr Neurol
; 8(1): 35-44, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15023373