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1دورية 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
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1122985/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية 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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3دورية أكاديمية
المؤلفون: Anna Lauritano, Sebastien Moutton, Elena Longobardi, Frédéric Tran Mau‐Them, Giusy Laudati, Piera Nappi, Maria Virginia Soldovieri, Paolo Ambrosino, Mauro Cataldi, Thibaud Jouan, Daphné Lehalle, Hélène Maurey, Christophe Philippe, Francesco Miceli, Antonio Vitobello, Maurizio Taglialatela
المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 464-475 (2019)
مصطلحات موضوعية: early‐onset epileptic encephalopathy, homozygous loss‐of‐function variant, intellectual disability, KCNQ3, next‐generation sequencing, nonsense‐mediated mRNA decay, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2470-9239Test
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4دورية أكاديمية
المؤلفون: Elena Longobardi, Francesco Miceli, Agnese Secondo, Rita Cicatiello, Antonella Izzo, Nadia Tinto, Sebastien Moutton, Frédéric Tran Mau-Them, Antonio Vitobello, Maurizio Taglialatela
المصدر: Stem Cell Research, Vol 53, Iss , Pp 102311- (2021)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506121001574Test; https://doaj.org/toc/1873-5061Test
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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: Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Anne Boland, Robert Olaso, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Antonio Vitobello
المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)
مصطلحات موضوعية: genome sequencing, RNA-seq, optical genome mapping, long-read sequencing, clinical diagnoses, Biology (General), QH301-705.5
العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2023.1021920/fullTest; https://doaj.org/toc/2296-634XTest; https://doaj.org/article/4593e6258ee746c78872071719392347Test
الإتاحة: https://doi.org/10.3389/fcell.2023.1021920Test
https://doaj.org/article/4593e6258ee746c78872071719392347Test -
7دورية أكاديمية
المؤلفون: Estelle Colin, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Hana Safraou, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Charlotte Poë, Victor Couturier, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Christophe Philippe, Bekim Sadikovic, Christel Thauvin-Robinet, Laurence Faivre, Jean-François Deleuze, Antonio Vitobello
المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)
مصطلحات موضوعية: undiagnosed neurodevelopmental diseases, genome sequencing, transcriptome sequencing, DNA methylation analysis, translational research, Biology (General), QH301-705.5
العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.1021785/fullTest; https://doaj.org/toc/2296-634XTest; https://doaj.org/article/dc232e817b8e4d02a082ed5b52095a4fTest
الإتاحة: https://doi.org/10.3389/fcell.2022.1021785Test
https://doaj.org/article/dc232e817b8e4d02a082ed5b52095a4fTest -
8دورية أكاديمية
المؤلفون: Maurizio Taglialatela, Rita Cicatiello, Nadia Tinto, Antonio Vitobello, Sebastien Moutton, Frédéric Tran Mau-Them, Francesco Miceli, Agnese Secondo, Elena Longobardi, Antonella Izzo
مصطلحات موضوعية: Aurora Universities Network, FORTHEM Alliance, Cell Biology, Developmental Biology, General Medicine, EU Framework Programme for Research and Innovation Excellent Science
العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/142675Test
الإتاحة: https://doi.org/10.1016/j.scr.2021.102311Test
https://www.openaccessrepository.it/record/142675Test -
9دورية أكاديمية
المؤلفون: Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)
مصطلحات موضوعية: Inherited metabolic disorders, Exome sequencing, Intellectual disability, Developmental delay, Genotype first, Medicine (General), R5-920, Biology (General), QH301-705.5
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921001075Test; https://doaj.org/toc/2214-4269Test; https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582eTest
الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100812Test
https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582eTest -
10
المؤلفون: Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
المصدر: European Journal of Human Genetics. 30:967-975
مصطلحات موضوعية: Fetus, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Genetics, Humans, Abnormalities, Multiple, Exome, Female, Autopsy, Ultrasonography, Prenatal, Genetics (clinical), Congenital Abnormalities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b31117fffc3771efb6e81b39d2db9b0Test
https://doi.org/10.1038/s41431-022-01117-7Test