Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36446582
2.
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study.
Neuropediatrics
; 52(3): 192-200, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33657631
3.
[Prevalence of autism spectrum disorders in USA, Europe and Spain: coincidences and discrepancies]. / Prevalencia de los trastornos del espectro autista en niños en Estados Unidos, Europa y España: coincidencias y discrepancias.
Medicina (B Aires)
; 79(Suppl 1): 4-9, 2019.
Artigo
Espanhol
| MEDLINE | ID: mdl-30776272
4.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Neuromuscul Disord
; 34: 1-8, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38087756
5.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Front Genet
; 13: 652454, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35495150
6.
[Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain.] / Prevalencia y distribución geográfica del síndrome de Wolf-Hirschhorn en España.
Rev Esp Salud Publica
; 962022 Jun 08.
Artigo
Espanhol
| MEDLINE | ID: mdl-35703131
7.
Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.
J Clin Med
; 9(11)2020 Nov 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33158290
8.
[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays]. / Síndrome de Wolf-Hirschhorn. Descripción de cinco casos caracterizados por microarrays de polimorfismos de nucleótido único.
Arch Argent Pediatr
; 117(4): e406-e412, 2019 08 01.
Artigo
Espanhol
| MEDLINE | ID: mdl-31339285
9.
Prevalencia y distribución geográficadel síndrome de Wolf-Hirschhornen España / Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain
Rev. esp. salud pública
; 96: e202206045-e202206045, Jun. 2022. mapas, graf, tab
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-211303
10.
Benign spasms of infancy or benign myoclonus of early infancy: polygraph-EEG recordings.
Epileptic Disord
; 23(5): 801-802, 2021 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34548274
11.
Epilepsia sintomática con inicio que imita el síndrome de Panayiotopoulos: importancia de la neuroimagen / Symptomatic epilepsy with Panayiotopoulos-like onset: the importance of neuroimaging
Rev. neurol. (Ed. impr.)
; 70(4): 134-138, 16 feb., 2020. ilus
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-192848
12.
Prevalencia de los trastornos del espectro autista en niños en Estados Unidos, Europa y España: coincidencias y discrepancias / Prevalence of autism spectrum disorders in USA, Europe and Spain: coincidences and discrepancies
Medicina (B.Aires)
; 79(1,supl.1): 4-9, abr. 2019. tab
Artigo
Espanhol
| LILACS | ID: biblio-1002597
13.
Síndrome de Wolf-Hirschhorn: Descripción de cinco casos caracterizados por microarrays de polimorfismos de nucleótido único / Wolf-Hirschhorn syndrome: Description of five cases characterized by means of single nucleotide polymorphism microarrays
Arch. argent. pediatr
; 117(4): 406-412, ago. 2019. ilus, tab
Artigo
Espanhol
| LILACS, BINACIS | ID: biblio-1054946
14.
[Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process]. / Sindrome de Wolf-Hirschhorn. Serie de 27 pacientes: caracteristicas epidemiologicas y clinicas. Situacion actual de los pacientes y opinion de sus cuidadores respecto al proceso diagnostico.
Rev Neurol
; 57(2): 49-56, 2013 Jul 16.
Artigo
Espanhol
| MEDLINE | ID: mdl-23836334
15.
[Incidence and characteristics of tumours of the central nervous system among the paediatric population of Asturias. New data about an incidence on the rise]. / Incidencia y características de tumores del sistema nervioso central en la población pediátrica asturiana. Nuevos datos sobre una incidencia en aumento.
Rev Neurol
; 54(9): 530-6, 2012 May 01.
Artigo
Espanhol
| MEDLINE | ID: mdl-22532216
16.
[Lumbar spinal cord injury without radiological abnormality in a child: an exceptional form of presentation]. / Lesión medular lumbar sin anomalías visibles en imágenes radiológicas. Localización excepcional en un niño.
Arch Argent Pediatr
; 109(3): e47-51, 2011 Jun.
Artigo
Espanhol
| MEDLINE | ID: mdl-21660376
17.
Mejora de la eficacia del tratamiento del a disfagia en personas con parálisis cerebral. Trabajo multidisciplinar / Improving the effectiveness of dysphagia treatment in people with cerebral palsy. Multidisciplinary work
Rev. logop. foniatr. audiol. (Ed. impr.)
; 41(4): 208-209, Oct-Dic, 2021.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-227658
18.
Shapiro Shulman syndrome: a forgotten condition.
Pediatr Neurol
; 44(4): 308-10, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21397176
19.
Síndrome de Wolf-Hirschhorn: ¿simple omisión al citar?. Réplica / Wolf-Hirschhorn syndrome: just a citation omission?
Rev. neurol. (Ed. impr.)
; 65(5): 239-240, 1 sept., 2017.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-166964
20.
Síndrome de Wolf-Hirschhorn. Descripción de una cohorte española de 51 casos y revisión de la bibliografía / Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review
Rev. neurol. (Ed. impr.)
; 64(9): 393-400, 1 mayo, 2017. tab, ilus, graf
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-162602