Detalhe da pesquisa
1.
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
2.
Pseudotumoral cerebellitis with acute hydrocephalus as a manifestation of EBV infection.
Rev Neurol (Paris)
; 174(1-2): 70-72, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29108711
3.
Cerebral germinoma revealed through a polydipsic polyuric syndrome in a 10-year-old girl: case report.
Endocr Regul
; 51(4): 216-219, 2017 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29232188
4.
[Multiple bladder diverticula caused by occipital horn syndrome]. / Diverticulose vésicale liée à un syndrome de la corne occipitale.
Arch Pediatr
; 22(11): 1147-50, 2015 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-26386812
5.
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
Am J Med Genet
; 85(5): 479-85, 1999 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-10405446
6.
Selective direct toxicity of cocaine on fetal mouse neurons. Teratogenic implications of neurite and apoptotic neuronal loss.
Ann N Y Acad Sci
; 846: 51-68, 1998 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-9668397
7.
In contrast to cocaine, prenatal exposure to methadone does not produce detectable alterations in the developing mouse brain.
Brain Res Dev Brain Res
; 110(1): 61-7, 1998 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-9733920
8.
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
Clin Chim Acta
; 295(1-2): 87-96, 2000 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10767396
9.
In vitro neuroteratogenicity of valproic acid and 4-en-VPA.
Neurotoxicol Teratol
; 17(4): 425-35, 1995.
Artigo
em Inglês
| MEDLINE | ID: mdl-7565489
10.
Cricopharyngeal achalasia: case reports and review of the literature.
Eur J Pediatr Surg
; 9(2): 109-12, 1999 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-10342119
11.
[Hereditary metabolic causes of stroke and pseudo-stroke in adulthood]. / Stroke et pseudo-stroke d'origine héréditaire métabolique à l'âge adulte.
Rev Med Interne
; 22 Suppl 3: 338s-346s, 2001 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-11794878
12.
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
J Med Genet
; 39(6): 440-2, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12070256
13.
Ketanserin treatment of Tourette's syndrome in children.
Am J Psychiatry
; 156(7): 1122-3, 1999 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-10401479
14.
[Clinical synthesis and investigation protocol: "extrapyramidal" signs, clinical orientation]. / Synthèse clinique et protocole d'investigation: les signes "extrapyramidaux", orientation clinique.
Arch Pediatr
; 3 Suppl 1: 176s-178s, 1996.
Artigo
em Francês
| MEDLINE | ID: mdl-8796007
15.
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits.
Neuropediatrics
; 38(6): 276-81, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18461502
16.
L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.
Eur J Neurol
; 13(5): 499-504, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16722976
17.
Urea cycle defects: management and outcome.
J Inherit Metab Dis
; 28(3): 407-14, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15868473
18.
Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients.
Pediatrics
; 116(5): 1170-7, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16264005
19.
Selective neuronal toxicity of cocaine in embryonic mouse brain cocultures.
Proc Natl Acad Sci U S A
; 92(24): 11029-33, 1995 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-7479930
20.
Comparison of antigen contents in co-cultures by an in situ immunoradiometric assay.
Biol Cell
; 91(8): 629-36, 1999 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-10629942