Detalhe da pesquisa
1.
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
Clin Genet
; 87(4): 356-61, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24697219
2.
Clinico-radiological features of subarachnoid hyperintensity on diffusion-weighted images in patients with meningitis.
Clin Radiol
; 67(4): 306-12, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22192625
3.
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
Clin Genet
; 85(4): 396-8, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23745724
4.
Clinical and neuroradiologic findings of congenital hydrocephalus in infant born to mother with HTLV-I-associated myelopathy.
Neurology
; 42(7): 1406-8, 1992 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-1620356
5.
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?
Am J Med Genet
; 56(1): 6-9, 1995 Mar 13.
Artigo
Inglês
| MEDLINE | ID: mdl-7747786
6.
Immunostaining of human amniotic epithelial cells: possible use as a transgene carrier in gene therapy for inborn errors of metabolism.
Cell Transplant
; 4(3): 343-6, 1995.
Artigo
Inglês
| MEDLINE | ID: mdl-7640874
7.
Evidence for active acetylcholine metabolism in human amniotic epithelial cells: applicable to intracerebral allografting for neurologic disease.
Neurosci Lett
; 232(1): 53-6, 1997 Aug 22.
Artigo
Inglês
| MEDLINE | ID: mdl-9292890
8.
Early onset muscular dystrophy with autosomal dominant heredity. Report of a family and CT findings of skeletal muscle.
Brain Dev
; 16(5): 402-6, 1994.
Artigo
Inglês
| MEDLINE | ID: mdl-7892962
9.
Event-related potentials (P300) and EEG activity in childhood partial epilepsy.
Brain Dev
; 19(2): 117-21, 1997 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-9105657
10.
Epileptic seizures and event-related potentials (P300) in childhood partial epilepsies.
Clin Electroencephalogr
; 28(2): 106-11, 1997 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-9137874
11.
Simple and low-cost tele-nuclear medicine conference system with the e-mail protocol.
Ann Nucl Med
; 15(5): 465-70, 2001 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-11758956
12.
Germinoma arising in the basal ganglia in early stage: CT and MR findings.
Radiat Med
; 13(6): 305-8, 1995.
Artigo
Inglês
| MEDLINE | ID: mdl-8850373
13.
FDG-PET findings in sclerosing hemangioma of the lung: a case report.
Radiat Med
; 19(4): 215-8, 2001.
Artigo
Inglês
| MEDLINE | ID: mdl-11550723
14.
Intracaval invasion of left adrenal cortical carcinoma extending into the right atrium.
Radiat Med
; 15(5): 327-30, 1997.
Artigo
Inglês
| MEDLINE | ID: mdl-9445155
15.
Are animal models useful for understanding the pathophysiology of lysosomal storage disease?
Acta Paediatr Suppl
; 92(443): 54-62; discussion 45, 2003 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-14989467
16.
[Evaluation of cerebral perfusion imaging with N-isopropyl-p-[123I]iodoamphetamine (IMP) in the cases of antiphospholipid syndrome].
Kaku Igaku
; 32(1): 31-40, 1995 Jan.
Artigo
Japonês
| MEDLINE | ID: mdl-7897866
17.
[Automatic calculation of left ventricular volume and ejection fraction from gated myocardial perfusion SPECT--basic evaluation using phantom].
Kaku Igaku
; 35(2): 77-83, 1998 Feb.
Artigo
Japonês
| MEDLINE | ID: mdl-9567032
18.
[Relationship between electroencephalographic abnormality and late blink reflex responses in infantile spasms and EIEE].
No To Hattatsu
; 23(6): 555-9, 1991 Nov.
Artigo
Japonês
| MEDLINE | ID: mdl-1760200
19.
[A case of early-onset and slowly progressive chronic inflammatory demyelinating polyneuropathy--electrophysiological findings with clinical course].
No To Hattatsu
; 26(6): 522-7, 1994 Nov.
Artigo
Japonês
| MEDLINE | ID: mdl-7528520
20.
[A case of Sanfilippo syndrome type C: long-term clinical course and treatment].
No To Hattatsu
; 30(4): 317-22, 1998 Jul.
Artigo
Japonês
| MEDLINE | ID: mdl-9695627