Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "PARAMONOV, Ida"
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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
DE BOER, Elke; OCKELOEN, Charlotte W.; MATALONGA, Leslie ...(European Journal of Human Genetics, 2021-06-01)Article de revueOpen access -
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)
DE BOER, Elke; OCKELOEN, Charlotte W.; MATALONGA, Leslie ...(European Journal of Human Genetics. vol. 29, n° 9, pp. 1470-1471, 2021-07-15)Article de revue