Detalhe da pesquisa
1.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
2.
Automated extraction of quality indicators for treatment of children with complex developmental disorders: A feasibility study using the example of attention-deficit/hyperactivity disorder.
Int J Qual Health Care
; 31(7): 563-567, 2019 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295824
3.
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Arthritis Rheum
; 62(5): 1469-77, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20131292
4.
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Orphanet J Rare Dis
; 11(1): 104, 2016 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27473762
5.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 48(10): 1185-92, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27571260
6.
Progressive muscle weakness after high-dose steroids in two children with CIDP.
Pediatr Neurol
; 29(3): 236-8, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-14629908
7.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 49(2): 317, 2017 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28138155
8.
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Nat Genet
; 44(3): 338-42, 2012 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22267198