Detalhe da pesquisa
1.
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
Clin Genet
; 87(2): 141-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24597975
2.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
J Med Genet
; 50(7): 463-72, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644449
3.
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
J Med Genet
; 46(4): 242-8, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18805830
4.
Slow-releasing permanganate ions from permanganate core-manganese oxide shell particles for the oxidative degradation of an algae odorant in water.
Chemosphere
; 223: 391-398, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30797162
5.
Progressive intracranial vascular disease with strokes and seizures in a boy with progeria.
J Child Neurol
; 16(3): 212-5, 2001 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11305689
6.
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.
J Inherit Metab Dis
; 29(1): 214-9, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16601897
7.
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
Neurology
; 73(5): 400-1, 2009 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19652145