Detalhe da pesquisa
1.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132
2.
5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.
Am J Med Genet A
; 170(3): 688-93, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26774077
3.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A
; 167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604658
4.
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.
Am J Med Genet A
; 179(6): 1074-1076, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30912254
5.
Cuteness and the Power of Emotion.
Neurol India
; 71(4): 737-741, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37635507
6.
[Telerehabilitation of Subjects with Neurodevelopmental Disorders During Confinement due to COVID-19]. / Telerrehabilitación de sujetos con trastornos del neurodesarrollo durante el confinamiento por COVID-19.
Rev Colomb Psiquiatr
; 2022 May 17.
Artigo
em Espanhol
| MEDLINE | ID: mdl-35600217
7.
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
Eur J Med Genet
; 64(12): 104363, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34673242
8.
DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family.
Epileptic Disord
; 21(1): 42-47, 2019 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767899
9.
[Prevalence and incidence of disability based on the Unique Certificate of Disability at a teaching hospital in the Metropolitan Area of Buenos Aires]. / Prevalencia e incidencia de discapacidad a partir del Certificado Único de Discapacidad en un hospital universitario del Área Metropolitana de Buenos Aires.
Arch Argent Pediatr
; 117(3): 183-187, 2019 06 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-31063306
10.
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.
Eur J Med Genet
; 62(11): 103571, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414531
11.
Epilepsy surgery in children and adolescents: Report on 43 cases. / Cirugía de la epilepsia en niños y adolescentes: experiencia de 43 casos.
Arch Argent Pediatr
; 114(5): 458-63, 2016 10 01.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-27606645
12.
CSF and Blood Levels of GFAP in Alexander Disease
eNeuro
; 2(5)2015 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26478912
13.
Jugular venous oxygen saturation or arteriovenous difference of lactate content and outcome in children with severe traumatic brain injury.
Pediatr Crit Care Med
; 4(1): 33-8, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12656539
14.
Trastornos transitorios de la lectura asociados a descargas paroxísticas epileptiformes interictales en videocorticografía invasiva / Transient reading disorders associated with interictal epileptiform paroxysmal discharges in invasive videocorticography
Rev. neurol. (Ed. impr.)
; 68(12): 517-523, 16 jun., 2019. tab, graf, ilus
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-180479
15.
Treatment of refractory epilepsy with the modified Atkins diet.
Arch Argent Pediatr
; 112(4): 348-51, 2014 08.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-24955906
16.
Prevalencia e incidencia de discapacidad a partir del Certificado Único de Discapacidad en un hospital universitario del Área Metropolitana de Buenos Aires / Prevalence and incidence of disability based on the Unique Certificate of Disability at a teaching hospital in the Metropolitan Area of Buenos Aires
Arch. argent. pediatr
; 117(3): 183-187, jun. 2019. graf, tab
Artigo
em Inglês, Espanhol
| LILACS, BINACIS | ID: biblio-1001194
17.
[Super-refractory status epilepticus: treatment with ketogenic diet in pediatrics]. / Estado de mal epileptico superrefractario: tratamiento con dieta cetogenica en pediatria.
Rev Neurol
; 55(1): 20-5, 2012 Jul 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-22718405
18.
Identifying the trigeminal nerve branches for transovale radiofrequency thermolesion: "no pain, no stress".
Neurosurgery
; 70(2 Suppl Operative): 259-63, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22089757
19.
[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings]. / Deficiencia de 3-hidroxiacil coA deshidrogenasa de cadena larga, asociación con HELLP y hallazgos en la espectroscopia por resonancia magnética.
Arch Argent Pediatr
; 110(4): e63-6, 2012 Aug.
Artigo
em Espanhol
| MEDLINE | ID: mdl-22859334
20.
Fluencia verbal: un test neuropsicológico breve para la detección de trastornos cognitivos en pediatría / Verbal fluency: A rapid neuropsychological test for the detection of cognitive disorders in pediatrics
Acta neurol. colomb
; 33(3): 142-147, jul.-set. 2017. tab, graf
Artigo
em Espanhol
| LILACS | ID: biblio-886438