المؤلفون: Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet

المصدر: EMBO Molecular Medicine, Vol 15, Iss 8, Pp n/a-n/a (2023)

مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/0a7e7570d3ec48889ab6d74d61b6f5a7

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

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1099995/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/cfb986b66f2e4ab7a0d4424ced7c5602

المؤلفون: Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoît Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau-Them, Éléonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amélie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M. Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology

المصدر: European Journal of Human Genetics, 31(4), 461-468. Nature Publishing Group
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, ' The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant ', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468 . https://doi.org/10.1038/s41431-023-01307-x

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bd3051ef1e64c7bdec49a7621be4891
https://doi.org/10.1038/s41431-023-01307-x

المؤلفون: Julie Masson, Céline Pebrel‐Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kevin Uguen, Pierre‐Antoine Rollat‐Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie‐Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin‐Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth‐Bolard

المصدر: Clinical Genetics. 103:401-412

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21d085136b287e8ea95ad8394c467a1a
https://doi.org/10.1111/cge.14291

المؤلفون: Richard Holt, David Goudie, Alejandra Damián Verde, Alice Gardham, Francis Ramond, Audrey Putoux, Ajoy Sarkar, Virginia Clowes, Jill Clayton-Smith, Siddharth Banka, Laura Cortazar Galarza, Gilles Thuret, Marta Ubeda Erviti, Ane Zurutuza Ibarguren, Raquel Sáez Villaverde, Alejandra Tamayo Durán, Carmen Ayuso, Dorine A Bax, Julie Plaisancie, Marta Corton, Nicolas Chassaing, Patrick Calvas, Nicola K Ragge

المصدر: Ophthalmic Genetics. 43:809-816

مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7ecd84033d347a6aa82f798fff34786b
https://doi.org/10.1080/13816810.2022.2144905

المؤلفون: Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine AUDEBERT-BELLANGER, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noelle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Anne Dieux Coeslier, Christèle Dubourg, Patrick Edery, salima EL CHEHADEH, Laurence Faivre, Mélanie FRADIN, Aurore Garde, David Geneviève, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Ines HARZALLAH, Delphine Héron, Bertrand Isidor, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaetan Lesca, James Lespinasse, Jonathan Levy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent PASQUIER, Laurine Perrin, Florence Petit, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quelin, Sylvia Quemener, Mélanie Rama, Marlène RIO, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale SAUGIER-VEBER, Thomas Smol, Sabine Sigaudy, Renaud TOURAINE, Frédéric Tran-Mau-Them, Aurélien Trimouille, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2c59bc993669dbcd0685342c07953eee
https://doi.org/10.21203/rs.3.rs-2924104/v1

المؤلفون: Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Claire Benetollo, Clément Saccaro, Justine Guguin, Gabriel Sala, Audric Cologne, Marion Delous, Gaetan Lesca, Richard A Padgett, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer

المصدر: PLoS ONE, Vol 15, Iss 7, p e0235655 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/c65c22bed0df489ab421b2e558d11852

المؤلفون: Amerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, Maryline Carneiro, Laurence Lion‐Francois, Massimiliano Rossi, Hélène Tevissen, Caroline Schluth Bolard, Audrey Labalme, Gaetan Lesca, Marianne Till, Patrick Edery, Damien Sanlaville

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)

مصطلحات موضوعية: aCGH, isochromosome 12p, Pallister–Killian syndrome, postnatal, tetrasomy 12p, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/8efea89c7dd142268e69be16c5bc2d92

المؤلفون: David Geneviève, Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz-Pallares, Xtraordinaire Association, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Arpin Stéphanie, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier-Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco-Fenzy, William Dufour, Benjamin Durand, Camille ENGEL, Laurence Faivre, Fanny Ferroul, Mélanie FRADIN, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gérard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Delphine Héron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalova, Audrey Putoux, Marlène RIO, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran-Mau-Them, Gabriele Trimarchi, Marie Vincent, Marketa Vlckova, Dagmar Wieczorek, Marjolaine Willems, kevin yauy, Michaela Zelinová, Alban Ziegler, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51bda5fc9b2ce8d9658317152dd59e70
https://doi.org/10.21203/rs.3.rs-2760508/v1

المؤلفون: Alexandre Janin, Evan Gouy, Audrey Putoux, Thomas Perouse-de-Monclos, Philippe Chevalier, Adèle Faucherre, Jourdano Mancilla Abaroa, Chris Jopling, Sophie Collardeau Frachon, Jelena Radojevic, Salima El Chehadeh, Gilles Millat

المصدر: Circulation: Genomic and Precision Medicine.

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2775ab776c29edf930b33f28c5ec1d6b
https://doi.org/10.1161/circgen.122.003881