Examinant per Autoria "Solve-RD-DITF-ITHACA"
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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 Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant(Elsevier, 2022) Boer, Elke de; Yaldiz, Burcu; Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; Laurie, Steven, 1973-; Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA