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Genes, Chromosomes & Cancer|September 17, 2016
Familial solitary chondrosarcoma resulting from germline EXT2 mutationAbdelkader Heddar, Pierre Fermey, Sophie Coutant, et al.Life (Basel, Switzerland)|March 6, 2021
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical PresentationIvana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, et al.Rheumatology (Oxford, England)|March 25, 2021
TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositisNadège Cordel, Céline Derambure, Sophie Coutant, et al.Journal of Medical Genetics|January 9, 2025
Li-Fraumeni syndrome: a germline <i>TP53</i> splice variant reveals a novel physiological alternative transcriptJeanne Louis, Marion Rolain, Corentin Levacher, et al.Journal of Medical Genetics|October 14, 2020
Blood functional assay for rapid clinical interpretation of germline <i>TP53</i> variantsSabine Raad, Marion Rolain, Sophie Coutant, et al.Plos Genetics|March 31, 2025
Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counsellingFrançois Lecoquierre, Nathalie Drouot, Sophie Coutant, et al.Acta Neuropathologica Communications|October 21, 2018
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsisMyriam Vezain, Matthieu Lecuyer, Marina Rubio, et al.Molecular Cell|July 26, 2016
CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver MutationsAlexis Guernet, Sathish Kumar Mungamuri, Dorthe Cartier, et al.Human Mutation|April 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndromeJuliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, et al.Human Genetics|April 19, 2023
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disordersFrançois Lecoquierre, Olivier Quenez, Steeve Fourneaux, et al.Pageof 4