Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
对一组与早衰综合征(包括层粘蛋白病及相关疾病)相关的基因进行为期4年的分子遗传学诊断的结果
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-019-1189-z
Grelet, Maude; Blanck, Véronique; Sigaudy, Sabine; Philip, Nicole; Giuliano, Fabienne; Khachnaoui, Khaoula; Morel, Godelieve; Grotto, Sarah; Sophie, Julia; Poirsier, Céline; Lespinasse, James; Alric, Laurent; Calvas, Patrick; Chalhoub, Gihane; Layet, Valérie; Molin, Arnaud; Colson, Cindy; Marsili, Luisa; Edery, Patrick; Lévy, Nicolas; De Sandre-Giovannoli, Annachiara