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European Journal of Human Genetics : EJHG|April 23, 2015
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneityJamal Ghoumid, Florence Petit, Muriel Holder-Espinasse, et al.European Journal of Medical Genetics|July 26, 2012
A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrumBianca Ethel Gutiérrez-Amavizca, Aniel Jessica Leticia Brambila-Tapia, Clara Ibet Juárez-Vázquez, et al.Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|December 6, 2003
Diagnostic value of MUC4 immunostaining in distinguishing epithelial mesothelioma and lung adenocarcinomaKarine Llinares, Fabienne Escande, Sébastien Aubert, et al.Biochimica Et Biophysica Acta. Proteins and Proteomics|November 29, 2016
Evaluation of non-supervised MALDI mass spectrometry imaging combined with microproteomics for glioma grade III classificationEmilie Le Rhun, Marie Duhamel, Maxence Wisztorski, et al.American Journal of Medical Genetics. Part A|May 29, 2013
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromesCaroline Alby, Bettina Bessieres, Eric Bieth, et al.Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer|September 10, 2018
Optimization of Routine Testing for MET Exon 14 Splice Site Mutations in NSCLC PatientsClotilde Descarpentries, Frédéric Leprêtre, Fabienne Escande, et al.American Journal of Medical Genetics. Part A|September 9, 2015
Association between Kniest dysplasia and chondrosarcoma in a childAudrey Hochart, Anne Dieux, Paul Coucke, et al.Seizure|March 7, 2008
Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenaseNadia Bahi-Buisson, Sandra El Sabbagh, Christine Soufflet, et al.Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer|March 15, 2020
Alterations in the PI3K Pathway Drive Resistance to MET Inhibitors in NSCLC Harboring MET Exon 14 Skipping MutationsPhilippe Jamme, Marie Fernandes, Marie-Christine Copin, et al.Scientific Reports|January 22, 2025
Diagnostic impact of DNA methylation classification in adult and pediatric CNS tumorsLaetitia Lebrun, Nathalie Gilis, Manon Dausort, et al.Pageof 8