Examinant per Autoria "Paramonov, Ida"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome(Nature Research, 2022) Keraite, Ieva; Becker, Philipp; Canevazzi, Davide; Frias-López, Cristina; Dabad, Marc; Tonda, Raúl; Paramonov, Ida; Ingham, Matthew; Brun-Heath, Isabelle; Leno, Jordi; Abulí, Anna; García-Arumí, Elena; Heath, Simon; Gut, Marta; Gut, Ivo Glynne
Ítem Accés Obert A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis(Nature Research, 2021) de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Solve-RD SNV-indel working group; Rodenburg, Richard J.; Coenen, Marieke J.H.; Janssen, Mirian; Henssen, Dylan; Gilissen, Christian; Steyaert, Wouter; Paramonov, Ida; Solve-RD-DITF-ITHACA; Trimouille, Aurélien; Kleefstra, Tjitske; Verloes, Alain; Vissers, Lisenka E.L.M.
Ítem Accés Obert High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases(Oxford University Press, 2022) Kurul, Semra Hiz; Matalonga, Leslie; Paramonov, Ida; Laurie, Steven, 1973-; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita
Ítem Accés Obert Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report(Nature Research, 2023) Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Köhler, Sebastian; Robinson, Peter N.; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana
Ítem Accés Obert Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases(Elsevier, 2023) Corvò, Alberto; Matalonga, Leslie; Laurie, Steven, 1973-; Picó-Amador, Daniel; Fernández Callejo, Marcos; Paramonov, Ida; Gut, Ivo Glynne; Piscia, Davide; Beltran, Sergi
Ítem Accés Obert The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases(Wiley, 2022) Laurie, Steven, 1973-; Piscia, Davide; Matalonga, Leslie; Corvò, Alberto; Fernández Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles, 1987-; Luengo, Cristina; Martínez, Inés; Papakonstantinou Ntalis, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Tonda, Raúl; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Pérez Jurado, Luis Alberto; Rambla de Argila, Jordi; Gut, Ivo Glynne; Lochmüller, Hanns; Beltran, Sergi