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1دورية 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
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 22, p 13664 (2022)
مصطلحات موضوعية: TRIP12, Clark–Baraitser syndrome, intellectual disability, DNA methylation, episignature, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Radhia M’Kacher, Marguerite Miguet, Pierre-Yves Maillard, Bruno Colicchio, Sophie Scheidecker, Wala Najar, Micheline Arnoux, Noufissa Oudrhiri, Claire Borie, Margaux Biehler, Andreas Plesch, Leonhard Heidingsfelder, Annelise Bennaceur-Griscelli, Alain Dieterlen, Philippe Voisin, Steffen Junker, Patrice Carde, Eric Jeandidier
المصدر: Genes, Vol 13, Iss 10, p 1762 (2022)
مصطلحات موضوعية: postnatal, telomere, sub-telomere region, duplication, trisomy, chromosomal instability, Genetics, QH426-470
وصف الملف: electronic resource
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4
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-xمصطلحات موضوعية: Genetics, Genetics (clinical)
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5
المؤلفون: Liselot, van der Laan, Kathleen, Rooney, Mariëlle, Alders, Raissa, Relator, Haley, McConkey, Jennifer, Kerkhof, Michael A, Levy, Peter, Lauffer, Mio, Aerden, Miel, Theunis, Eric, Legius, Matthew L, Tedder, Lisenka E L M, Vissers, Saskia, Koene, Claudia, Ruivenkamp, Mariette J V, Hoffer, Dagmar, Wieczorek, Nuria C, Bramswig, Theresia, Herget, Vanesa López, González, Fernando, Santos-Simarro, Pernille M, Tørring, Anne-Sophie, Denomme-Pichon, Bertrand, Isidor, Boris, Keren, Sophie, Julia, Elise, Schaefer, Christine, Francannet, Pierre-Yves, Maillard, Mala, Misra-Isrie, Hilde, Van Esch, Marcel M A M, Mannens, Bekim, Sadikovic, Mieke M, van Haelst, Peter, Henneman
المصدر: International journal of molecular sciences. 23(22)
مصطلحات موضوعية: Ubiquitin, Ubiquitin-Protein Ligases, Mental Retardation, X-Linked, Humans, Facies, Carrier Proteins
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6
المؤلفون: Pierre-Yves, Maillard, Sarah, Baer, Élise, Schaefer, Béatrice, Desnous, Nathalie, Villeneuve, Anne, Lépine, Alexandre, Fabre, Caroline, Lacoste, Salima, El Chehadeh, Amélie, Piton, Louise Frances, Porter, Caroline, Perriard, Marie-Thérèse Abi, Wardé, Marie-Aude, Spitz, Vincent, Laugel, Gaëtan, Lesca, Audrey, Putoux, Dorothée, Ville, Cyril, Mignot, Delphine, Héron, Rima, Nabbout, Giulia, Barcia, Marlène, Rio, Agathe, Roubertie, Pierre, Meyer, Véronique, Paquis-Flucklinger, Olivier, Patat, Jérémie, Lefranc, Marion, Gerard, Julietta, de Bellescize, Laurent, Villard, Anne, De Saint Martin, Mathieu, Milh
المصدر: EpilepsiaREFERENCES. 63(10)
مصطلحات موضوعية: Cohort Studies, Epilepsy, Phenotype, Mutation, Humans, Epilepsy, Generalized, Receptors, GABA-A, Genetic Association Studies, gamma-Aminobutyric Acid
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7كتاب إلكتروني
المؤلفون: Luiz Antonio De Assis Brasil, Pierre-Yves Maillard
نوع المادة: eBook.
تصنيفات: FICTION / Literary
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8
المؤلفون: Pierre-Yves Maillard
المصدر: Praxis. 103:551-553
مصطلحات موضوعية: Political science, General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::67563b13d2c6cb2110d6204a8084f80e
https://doi.org/10.1024/1661-8157/a001654 -
9
المؤلفون: Pierre-Yves Maillard, Daniel Widmer
المصدر: PrimaryCare. 13:54-56
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f080b95f482ed86e8537165f38561d66
https://doi.org/10.4414/pc-f.2013.00215 -
10
المؤلفون: Pierre-Yves, Maillard
المصدر: Praxis. 103(10)
مصطلحات موضوعية: Genetic Research, Human Genome Project, Humans, Genetic Privacy, Switzerland
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::45519ed0065e11a39324ae65f4962760
https://pubmed.ncbi.nlm.nih.gov/24800765