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01/12/2021
Current Status of Genetic Counselling for Rare Diseases in Spain
Alvaro-Sanchez, S, Abreu-Rodriguez, I, Abuli, A, Serra-Juhe, C, Garrido-Navas, MD. Current Status of Genetic Counselling for Rare Diseases in Spain. Diagnostics. 2021; 11(12)DOI:10.3390/diagnostics11122320. PMID:34943558. IF:3.992(Q2/4D).
01/09/2021
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies
Bernal, S, Pelaez, I, Alias, L, Baena, M, De Pablo-Moreno, JA, Serrano, LJ, Camero, MD, Tizzano, EF, Berrueco, R, Liras, A. High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021; 22(18)DOI:10.3390/ijms22189705. PMID:34575869. IF:6.208(Q1/3D).
01/07/2024
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy
Segarra-Casas, A, Yepez, VA, Demidov, G, Laurie, S, Esteve-Codina, A, Gagneur, J, Parkhurst, Y, Muni-Lofra, R, Harris, E, Marini-Bettolo, C, Straub, V, Töpf, A. An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2024; 25(14)DOI:10.3390/ijms25147793. PMID:39063034. IF:4.900(Q1/3D).
01/06/2024
Impact of Body Mass Index in the Cardioverter Efficacy of Amiodarone in Persistent Atrial Fibrillation
Ligero, C, Riera, P, El-Amrani, A, Bazan, V, Guerra, JM, Herraez, S, Viñolas, X, Alegret, JM. Impact of Body Mass Index in the Cardioverter Efficacy of Amiodarone in Persistent Atrial Fibrillation. Pharmaceuticals. 2024; 17(6)DOI:10.3390/ph17060693. PMID:38931360. IF:4.800(Q1/2D).
15/02/2024
Thirty-year of genetic counselling education in Europe: a growing professional area
Paneque, M, O'Shea, R, Narravula, A, Siglen, E, Ciuca, A, Abuli, A, Serra-Juhé, C. Thirty-year of genetic counselling education in Europe: a growing professional area. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; DOI:10.1038/s41431-024-01552-8. PMID:38355960. IF:4.600(Q1/2D).
01/01/2024
Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome
Palafoll, IV, Pérez, DV, Bruel, AL, Steichen, E, Codina, M, Martínez-Gil, N, Cusco, I, Thauvin-Robinet, C, Tizzano, E. Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).