المؤلفون: Caetano Da Silva, Caroline, Edouard, Thomas, Fradin, Melanie, Aubert-Mucca, Marion, Ricquebourg, Manon, Raman, Ratish, Salles, Jean Pierre, Charon, Valérie, Guggenbuhl, Pascal, Muller, Marc, Cohen-Solal, Martine, Collet, Corinne

المصدر: Human Molecular Genetics (2022)

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine, Human Genetics, cell signalling, Wnt Pathway, early-onset osteoporosis, osteoblastogenesis, Bone Mineral Density, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddab349/42198713/ddab349.pdfTest; urn:issn:0964-6906; urn:issn:1460-2083

الوصول الحر: https://orbi.uliege.be/handle/2268/290725Test

المؤلفون: Tenney, Alan P., Di Gioia, Silvio Alessandro, Webb, Bryn D., Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J., Barry, Brenda J., Ray, Tammy, Kosicki, Michael, Robson, Caroline D., Zhang, Zhongyang, Collins, Thomas E., Gelber, Alon, Pratt, Brandon M., Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E., Van Ryzin, Carol, Lehky, Tanya J., Zalewski, Christopher, King, Kelly A., Brewer, Carmen C., Thurm, Audrey, Snow, Joseph, Facio, Flavia M., Narisu, Narisu, Bonnycastle, Lori L., Swift, Amy, Chines, Peter S., Bell, Jessica L., Mohan, Suresh, Whitman, Mary C., Staffieri, Sandra E., Elder, James E., Demer, Joseph L., Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A., Brady, Angela F., Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W., Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H., Parker, Stephen C. J., Hadlock, Tessa A., Vissers, Lisenka E. L. M., van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S., Pennacchio, Len A., Manoli, Irini, Engle, Elizabeth C.

المصدر: Nature Genetics; July 2023, Vol. 55 Issue: 7 p1149-1163, 15p

المؤلفون: Lefebvre, Mathilde, Dieux-Coeslier, Anne, Baujat, Genevieve, Schaefer, Elise, Judith, Saint-Onge, Bazin, Anne, Pinson, Lucile, Attie-Bitach, Tania, Baumann, Clarisse, Fradin, Melanie, PIERQUIN, Geneviève, Julia, Sophie, Quelin, Chloe, Doray, Berenice, Berg, Sylvie, Vincent-Delorme, Catherine, Lambert, Laetitia, Bachmann, Nadine, Lacombe, Didier, Isidor, Bertrand, Laurent, Nicole, Joelle, Roume, Blanchet, Patricia, Odent, Sylvie, Kervran, Dominique, Leporrier, Nathalie, Abel, Carine, SEGERS, Karin, Guiliano, Fabienne, Ginglinger-Fabre, Emmanuelle, Selicorni, Angelo, Goldenberg, Alice, El Chehadeh, Salima, Francannet, Christine, Demeer, Benedicte, Duffourd, Yannis, Thauvin-Robinet, Christel, Verloes, Alain, Cormier-Daire, Valerie, Riviere, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien

المصدر: Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. Journal of medical genetics, 55(6), 422-429., England. (2018).

مصطلحات موضوعية: Adolescent, Basic Helix-Loop-Helix Transcription Factors/genetics, Bone Diseases, Developmental/genetics/physiopathology, Child, Child, Preschool, Female, Glycosyltransferases/genetics, Humans, Infant, Intracellular Signaling Peptides and Proteins/genetics, Male, Membrane Proteins/genetics, Mutation, Pedigree, Phenotype, Spine/metabolism/pathology, T-Box Domain Proteins/genetics, Whole Exome Sequencing, diagnostic strategy, gene panel, segmentation defect of the vertebrae, spondylocostal dysostosis, whole exome sequencing, Life sciences :: Genetics & genetic processes, Sciences du vivant :: Génétique & processus génétiques

الوصول الحر: https://orbi.uliege.be/handle/2268/242507Test

المؤلفون: Lefebvre, Mathilde, Bruel, Ange-Line, Tisserant, Emilie, Bourgon, Nicolas, Duffourd, Yannis, Collardeau-Frachon, Sophie, Attie-Bitach, Tania, Kuentz, Paul, assoum, Mirna, Schaefer, Elise, El Chehadeh, Salima, Antal, Maria Cristina, Kremer, Valérie, Girard-Lemaitre, Francoise, Mandel, Jean-Louis, Lehalle, Daphne, Nambot, Sophie, Jean-Marcais, Nolwenn, Houcinat, Nada, Moutton, Sébastien, Marle, Nathalie, Lambert, Laetita, Jonveaux, Philippe, Foliguet, Bernard, Mazutti, Jean-Pierre, Gaillard, Dominique, Alanio, Elisabeth, Poirisier, Celine, Lebre, Anne-Sophie, Aubert-Lenoir, Marion, Arbez-Gindre, Francine, Odent, Sylvie, Quélin, Chloé, Loget, Philippe, Fradin, Melanie, Willems, Marjolaine, Bigi, Nicole, Perez, Marie-José, Blesson, Sophie, Francannet, Christine, Beaufrere, Anne-Marie, Patrier-Sallebert, Sophie, Guerrot, Anne-Marie, Goldenberg, Alice, Brehin, Anne-Claire, Lespinasse, James, Touraine, Renaud, Capri, Yline, Saint-Frison, Marie-Hélène, Laurent, Nicole, Philippe, Christophe, Tran Mau-them, Frederic, Thevenon, Julien, Faivre, Laurence, Thauvin-Robinet, Christel, Vitobello, Antonio

المصدر: Journal of Medical Genetics (JMG); 2021, Vol. 58 Issue: 6 p400-413, 14p

المؤلفون: Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C., Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

المصدر: Genetics in Medicine; July 2019, Vol. 21 Issue: 7 p1-5, 5p

المؤلفون: Nguyen, Karine, Broucqsault, Natacha, Chaix, Charlene, Roche, Stephane, Robin, Jérôme D, Vovan, Catherine, Gerard, Laurene, Mégarbané, André, Urtizberea, Jon Andoni, Bellance, Remi, Barnérias, Christine, David, Albert, Eymard, Bruno, Fradin, Melanie, Manel, Véronique, Sacconi, Sabrina, Tiffreau, Vincent, Zagnoli, Fabien, Cuisset, Jean-Marie, Salort-Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafae¨lle, Lévy, Nicolas, Magdinier, Frederique

المصدر: Journal of Medical Genetics (JMG); 2019, Vol. 56 Issue: 9 p590-601, 12p