Buscar
01/01/2024
Relevance of enteroviruses in neonatal meningitis.
Moliner-Calderón E, Rabella-Garcia N, Turón-Viñas E, Ginovart-Galiana G, Figueras-Aloy J. Relevance of enteroviruses in neonatal meningitis.. Enfermedades Infecciosas Y Microbiologia Clinica (english Ed.). 2024; 42(1)DOI:10.1016/j.eimce.2022.12.012. PMID:36624031. IF:(Q/D).
01/01/2024
Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers
Sierra-Marcos, A, Ribosa-Nogué, R, Vidal-Robau, N, Aldecoa, I, Turón, E, Rodríguez-Santiago, B, Turón, M, Boronat, S, Molina-Porcel, L. Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers. EPILEPSY RESEARCH. 2024; 199DOI:10.1016/j.eplepsyres.2023.107266. PMID:38061235. IF:2.000(Q3/7D).
01/01/2024
Novel truncating variant reinforces the involvement of ZNF148 in autism spectrum disorder with normal neuroimaging
Hanna, LV, Serra-Juhé, C, Boronat, S, Rodríguez-Santiago, B, Baena, M, Cuscó, I. Novel truncating variant reinforces the involvement of ZNF148 in autism spectrum disorder with normal neuroimaging. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).
01/01/2024
A novel case provides new evidence of the occurrence of hereditary pathogenic variants in the RERE gene
Marsal-Olivan, A, Díaz, A, Vega, L, Baena, M, Boronat, S, Cuscó, I, Surrallés, J, Rodríguez-Santiago, B, Serra-Juhé, C. A novel case provides new evidence of the occurrence of hereditary pathogenic variants in the RERE gene. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).
22/08/2023
Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients
Esmel-Vilomara R., Valenzuela I., Riaza L., Rodríguez-Santiago B., Rosés-Noguer F., Boronat S., Sabaté-Rotés A.. Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients. European Journal of Medical Genetics. 2023; 66(9)DOI:10.1016/j.ejmg.2023.104823. PMID:37619836. IF:1.600(Q4/8D).
01/01/2023
Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature
Iznardo H., Bernal S., Boronat S., Roé E.. Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature. PEDIATRIC NEUROLOGY. 2023; 148DOI:10.1016/j.pediatrneurol.2023.07.022. PMID:37634327. IF:3.200(Q1/2D).