المؤلفون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, Van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M., Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J., Lyons, Michael J., Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R., Mitani, Tadahiro, Posey, Jennifer E., Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A., Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R., Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS ; ISSN: 0002-9297 ; ISSN: 1537-6605

مصطلحات موضوعية: Medicine and Health Sciences, Genetics (clinical), Genetics

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01GYYM7M9B6XFW9NMT6Y4E6XMMTest; http://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMMTest; http://doi.org/10.1016/j.ajhg.2023.03.016Test; https://biblio.ugent.be/publication/01GYYM7M9B6XFW9NMT6Y4E6XMM/file/01GZXAA5N95Z0ZQ0Q91N2M6Q8JTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.03.016Test
https://biblio.ugent.be/publication/01GYYM7M9B6XFW9NMT6Y4E6XMMTest
http://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMMTest
https://biblio.ugent.be/publication/01GYYM7M9B6XFW9NMT6Y4E6XMM/file/01GZXAA5N95Z0ZQ0Q91N2M6Q8JTest

المؤلفون: Smolen, Corrine, Jensen, Matthew, Dyer, Lisa, Pizzo, Lucilla, Tyryshkina, Anastasia, Banerjee, Deepro, Rohan, Laura, Huber, Emily, El Khattabi, Laila, Prontera, Paolo, Caberg, Jean-Hubert, Van Dijck, Anke, Schwartz, Charles, Faivre, Laurence, Callier, Patrick, Mosca-Boidron, Anne-Laure, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Lockhart, Paul J., Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Luana Mandarà, Giuseppa Maria, Bruccheri, Maria Grazia, Pichon, Olivier, Le Caignec, Cedric, Stoeva, Radka, Cuinat, Silvestre, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Nordsletten, Ashley, Martin-Coignard, Dominique, Sistermans, Erik, Kooy, R. Frank, Amor, David J., Romano, Corrado, Isidor, Bertrand, Juusola, Jane, Girirajan, Santhosh

المصدر: The American Journal of Human Genetics ; volume 110, issue 12, page 2015-2028 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.10.015Test
https://api.elsevier.com/content/article/PII:S0002929723003932?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929723003932?httpAccept=text/plainTest

المؤلفون: Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E.R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre

المساهمون: agence nationale de la recherche, Newlife – The Charity for Disabled Children

المصدر: Genetics in Medicine ; volume 23, issue 8, page 1484-1491 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01161-6Test
https://www.nature.com/articles/s41436-021-01161-6.pdfTest
https://www.nature.com/articles/s41436-021-01161-6Test
https://api.elsevier.com/content/article/PII:S1098360021050668?httpAccept=text/xmlTest
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المؤلفون: Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E.R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre

المصدر: Genetics in Medicine ; volume 23, issue 8, page 1585 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01217-7Test
https://www.nature.com/articles/s41436-021-01217-7.pdfTest
https://www.nature.com/articles/s41436-021-01217-7Test
https://api.elsevier.com/content/article/PII:S1098360021050796?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021050796?httpAccept=text/plainTest

المؤلفون: Thomas, Quentin, Gautier, Thierry, Marafi, Dana, Besnard, Thomas, Willems, Marjolaine, Moutton, Sébastien, Isidor, Bertand, Cogné, Benjamin, Conrad, Solène, Tenconi, Romano, Iascone, Maria, Sorlin, Arthur, Masurel, Alice, Dabir, Tabib, Jackson, Adam, Banka, Siddharth, Delanne, Julian, Lupski, James R., Saadi, Nebal Waill, Alkuraya, Fowzan S., Zahrani, Fatema Al, Agrawal, Pankaj B., England, Eleina, Madden, Jill A., Posey, Jennifer E., Burglen, Lydie, Rodriguez, Diana, Chevarin, Martin, Nguyen, Sylvie, Mau-Them, Frédéric Tran, Duffourd, Yannis, Garret, Philippine, Bruel, Ange-Line, Callier, Patrick, Marle, Nathalie, Denomme-Pichon, Anne-Sophie, Duplomb, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel, Govin, Jérôme, Faivre, Laurence, Vitobello, Antonio

المصدر: Genetics in Medicine ; volume 23, issue 10, page 1901-1911 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01218-6Test
https://www.nature.com/articles/s41436-021-01218-6.pdfTest
https://www.nature.com/articles/s41436-021-01218-6Test
https://api.elsevier.com/content/article/PII:S1098360021051315?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021051315?httpAccept=text/plainTest

المؤلفون: Callegarin, Davide, Callier, Patrick

المصدر: Actualités Pharmaceutiques ; volume 60, issue 611, page 21-24 ; ISSN 0515-3700

مصطلحات موضوعية: Pharmacology (medical), Pharmacology

الإتاحة: https://doi.org/10.1016/j.actpha.2021.10.006Test
https://api.elsevier.com/content/article/PII:S0515370021004067?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0515370021004067?httpAccept=text/plainTest

المؤلفون: Callier, Patrick, Sandel, Olivier

المصدر: Actualités Pharmaceutiques ; volume 60, issue 611, page 18-20 ; ISSN 0515-3700

مصطلحات موضوعية: Pharmacology (medical), Pharmacology

الإتاحة: https://doi.org/10.1016/j.actpha.2021.10.005Test
https://api.elsevier.com/content/article/PII:S0515370021004055?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0515370021004055?httpAccept=text/plainTest

المؤلفون: Delanne, Julian, Bruel, Ange-Line, Huet, Frédéric, Moutton, Sébastien, Nambot, Sophie, Grisval, Margot, Houcinat, Nada, Kuentz, Paul, Sorlin, Arthur, Callier, Patrick, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Mau-Them, Frédéric Tran, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Lehalle, Daphné, El Chehadeh, Salima, Francannet, Christine, Lebrun, Marine, Lambert, Laetitia, Jacquemont, Marie-Line, Gerard-Blanluet, Marion, Alessandri, Jean-Luc, Willems, Marjolaine, Thevenon, Julien, Chouchane, Mondher, Darmency, Véronique, Fatus-Fauconnier, Clémence, Gay, Sébastien, Bournez, Marie, Masurel, Alice, Leguy, Vanessa, Duffourd, Yannis, Philippe, Christophe, Feillet, François, Faivre, Laurence, Thauvin-Robinet, Christel

المصدر: Molecular Genetics and Metabolism Reports ; volume 29, page 100812 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100812Test
https://api.elsevier.com/content/article/PII:S2214426921001075?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426921001075?httpAccept=text/plainTest

المؤلفون: Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J.M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand

المصدر: Genetics in Medicine ; volume 21, issue 4, page 816-825 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-018-0266-3Test
http://www.nature.com/articles/s41436-018-0266-3Test
http://www.nature.com/articles/s41436-018-0266-3.pdfTest
https://api.elsevier.com/content/article/PII:S1098360021009631?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021009631?httpAccept=text/plainTest

المؤلفون: Bruel, Ange-Line, Vitobello, Antonio, Mau-Them, Frédéric Tran, Nambot, Sophie, Duffourd, Yannis, Quéré, Virginie, Kuentz, Paul, Garret, Philippine, Thevenon, Julien, Moutton, Sébastien, Lehalle, Daphné, Jean-Marçais, Nolwenn, Garde, Aurore, Delanne, Julian, Lefebvre, Mathilde, Lecoquierre, François, Trost, Detlef, Cho, Megan, Begtrup, Amber, Telegrafi, Aida, Vabres, Pierre, Mosca-Boidron, Anne-Laure, Callier, Patrick, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

المصدر: Genetics in Medicine ; volume 21, issue 7, page 1657-1661 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-018-0383-zTest
http://www.nature.com/articles/s41436-018-0383-z.pdfTest
http://www.nature.com/articles/s41436-018-0383-zTest
https://api.elsevier.com/content/article/PII:S1098360021016968?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021016968?httpAccept=text/plainTest