Search
01/01/2024
Rescate de morfina intratecal con ziconotida en el tratamiento del dolor crónico benigno
Alex Rodríguez-Vergara, Mercè Genovè-Cortada, Laia Rosés-Alvarez, Martha C. Melo-Cruz, Marta Ferrándiz-Mach. Rescate de morfina intratecal con ziconotida en el tratamiento del dolor crónico benigno. Dolor: Investigación, Clínica & Terapéutica. 2024; 39DOI:. PMID:. 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).