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Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis by Aurélien Palmyre, Fairouz Koraichi, Flavie Ader, Erwan Donal, Céline Bordet, Pascal de Groote, Laurence Faivre, Patricia Reant, Annick Toutain, Karine Nguyen, Bertrand Isidor, Anne-Claire Brehin, Lise Legrand, Estelle Gandjbakhch, Julie Proukhnitzky, Richard Isnard, Nicolas Mansencal, Jean-François Pruny, Jean-Pierre Rabes, Bruno Francou, Catherine Caillaud, Pascale Richard, Philippe Charron
Published 2025-06-01Get full text
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Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnosticsResearch in context by Christopher C.Y. Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M.C. Chui, Mianne Lee, Fiona Leduc, Jennifer C. Dempsey, Pedro A. Sanchez-Lara, Hannah M. Bombei, John A. Bernat, Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll, Natalie Canham, Ajoy Sarkar, Yuri A. Zarate, Bert Callewaert, Ewelina Bukowska-Olech, Aleksander Jamsheer, Andreas Zankl, Marjolaine Willems, Laura Duncan, Bertrand Isidor, Benjamin Cogne, Odile Boute, Clémence Vanlerberghe, Alice Goldenberg, Elliot Stolerman, Karen J. Low, Vianney Gilard, Jeanne Amiel, Angela E. Lin, Christopher T. Gordon, Dan Doherty, Peter M. Krawitz, Rosanna Weksberg, Tzung-Chien Hsieh, Brian H.Y. Chung
Published 2025-05-01Get full text
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