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Nature Communications|September 21, 2021
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicityEndika Haro, Florence Petit, Charmaine U Pira, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefrontClémence Vanlerberghe, Frédéric Frénois, Thomas Smol, et al.The European Respiratory Journal|August 12, 2017
EGFR tyrosine kinase inhibitors <i>versus</i> chemotherapy in <i>EGFR</i> wild-type pre-treated advanced nonsmall cell lung cancer in daily practicePascale Tomasini, Solenn Brosseau, Julien Mazières, et al.Lung Cancer (Amsterdam, Netherlands)|December 17, 2019
Independent prognostic value of ultra-sensitive quantification of tumor pre-treatment T790M subclones in EGFR mutated non-small cell lung cancer (NSCLC) treated by first/second generation TKI, depends on variant allele frequency (VAF): Results of the French cooperative thoracic intergroup (IFCT) biomarkers France projectMichèle Beau-Faller, Erwan Pencreach, Charlotte Leduc, et al.JTO Clinical and Research Reports|September 30, 2021
Outcomes of Patients With Advanced NSCLC From the Intergroupe Francophone de Cancérologie Thoracique Biomarkers France Study by <i>KRAS</i> Mutation SubtypesAnne-Marie Ruppert, Michèle Beau-Faller, Didier Debieuvre, et al.Biology of the Cell|September 25, 2021
A new pancreatic adenocarcinoma-derived organoid model of acquired chemoresistance to FOLFIRINOX: First insight of the underlying mechanismsElsa Hadj Bachir, Charles Poiraud, Sonia Paget, et al.Human Mutation|September 11, 2019
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformationsAnne-Sophie Jourdain, Florence Petit, Marie-Françoise Odou, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.Human Mutation|April 1, 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASimon Boussion, Fabienne Escande, Anne-Sophie Jourdain, et al.The Journal of Molecular Diagnostics : JMD|November 5, 2013
A multicenter blinded study evaluating EGFR and KRAS mutation testing methods in the clinical non-small cell lung cancer setting--IFCT/ERMETIC2 Project Part 1: Comparison of testing methods in 20 French molecular genetic National Cancer Institute platformsMichèle Beau-Faller, Hélène Blons, Caroline Domerg, et al.Pageof 8