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1دورية أكاديمية
المؤلفون: Atteeq Rehman, Amanda Thomas-Wilson, Frederic Tran Mau-Them, Leandra Tolusso, Avinash Abyankar, Saurav Guha, Volkan Okur, Vanessa Felice, Robert Hopkin, Ashley Wilson, Ted Han, Qiaoning Guan, Jessica Giordano, Anne-Claire Bréhin, Ronald Wapner, Vaidehi Jobanputra
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101672- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424008185Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, Hiroshi Futagawa, Chloé Quélin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H. Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh
المصدر: HGG Advances, Vol 4, Iss 4, Pp 100238- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000702Test; https://doaj.org/toc/2666-2477Test
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3دورية أكاديمية
المؤلفون: Frederic Tran Mau‐Them, Yannis Duffourd, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Julian Delanne, Sebastien Moutton, Arthur Sorlin, Orphanomix Physician’s Group, Victor Couturier, Valentin Bourgeois, Martin Chevarin, Charlotte Poe, Anne‐Laure Mosca‐Boidron, Patrick Callier, Hana Safraou, Laurence Faivre, Christophe Philippe, Christel Thauvin‐Robinet
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
مصطلحات موضوعية: cost effectiveness, exome sequencing, rare diseases, trio‐like strategy, parental‐pool strategy, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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4دورية أكاديمية
المؤلفون: Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: GREP, intellectual disability, developmental anomalies, genomic database, diagnostic improvement, exome sequencing (ES), Genetics, QH426-470
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1122985/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bdTest
الإتاحة: https://doi.org/10.3389/fgene.2023.1122985Test
https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bdTest -
5دورية أكاديمية
المؤلفون: Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: exome sequencing (ES), chromosomal microarray, prenatal, fetal, diagnostic yield, Genetics, QH426-470
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1099995/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/cfb986b66f2e4ab7a0d4424ced7c5602Test
الإتاحة: https://doi.org/10.3389/fgene.2023.1099995Test
https://doaj.org/article/cfb986b66f2e4ab7a0d4424ced7c5602Test -
6دورية أكاديمية
المؤلفون: Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
مصطلحات موضوعية: anal imperforation, Bardet–Biedl syndrome, genital anomalies, sex assignment, Genetics, QH426-470
العلاقة: https://doi.org/10.1002/mgg3.1869Test; https://doaj.org/toc/2324-9269Test; https://doaj.org/article/d57fb7ce797d411e82a45357c1974eb9Test
الإتاحة: https://doi.org/10.1002/mgg3.1869Test
https://doaj.org/article/d57fb7ce797d411e82a45357c1974eb9Test -
7دورية أكاديمية
المؤلفون: Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau‐Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne‐laure Mosca‐Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin‐Robinet, Caroline Schluth‐Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean‐François Deleuze, Damien Sanlaville
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
مصطلحات موضوعية: 10X Genomics: Illumina, bioinformatics, genome sequencing, structural variants, Genetics, QH426-470
العلاقة: https://doi.org/10.1002/mgg3.1114Test; https://doaj.org/toc/2324-9269Test; https://doaj.org/article/2bc4ee64a0974d0d8733a52a9dd35fe4Test
الإتاحة: https://doi.org/10.1002/mgg3.1114Test
https://doaj.org/article/2bc4ee64a0974d0d8733a52a9dd35fe4Test