المؤلفون: Caron, Véronique, Chassaing, Nicolas, Ragge, Nicola, Boschann, Felix, Ngu, Angelina My-Hoa, Meloche, Elisabeth, Chorfi, Sarah, Lakhani, Saquib A, Ji, Weizhen, Steiner, Laurie, Marcadier, Julien, Jansen, Philip R, van de Pol, Laura A, van Hagen, Johanna M, Russi, Alvaro Serrano, Le Guyader, Gwenaël, Nordenskjöld, Magnus, Nordgren, Ann, Anderlid, Britt-Marie, Plaisancié, Julie, Stoltenburg, Corinna, Horn, Denise, Drenckhahn, Anne, Hamdan, Fadi F, Lefebvre, Mathilde, Attie-Bitach, Tania, Forey, Peggy, Smirnov, Vasily, Ernould, Françoise, Jacquemont, Marie-Line, Grotto, Sarah, Alcantud, Alberto, Coret, Alicia, Ferrer-Avargues, Rosario, Srivastava, Siddharth, Vincent-Delorme, Catherine, Romoser, Shelby, Safina, Nicole, Saade, Dimah, Lupski, James R, Calame, Daniel G, Geneviève, David, Chatron, Nicolas, Schluth-Bolard, Caroline, Myers, Kenneth A, Dobyns, William B, Calvas, Patrick, Study, The DDD, Salmon, Caroline, Holt, Richard, Elmslie, Frances, Allaire, Marc, Prigozhin, Daniil M, Tremblay, André, Michaud, Jacques L

المصدر: Genetics in Medicine. 25(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Humans, Receptors, Retinoic Acid, Retinoids, Microphthalmos, DDD Study, Dystonia, Global developmental delay, Microphthalmia, Retinoic acid, Retinoic acid receptor beta, Clinical Sciences, Genetics & Heredity

URL الوصول: https://escholarship.org/uc/item/30t610jx

المؤلفون: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, Depienne, Christel

المصدر: Genetics in Medicine. 22(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14x4x4wp

المؤلفون: Gouronc, Aurélie, Scheidecker, Sophie, Schluth-Bolard, Caroline

المصدر: Revue Francophone des Laboratoires; Jan2025, Vol. 2025 Issue 568, p19-27, 9p

المؤلفون: Reijnders, Margot RF, Miller, Kerry A, Alvi, Mohsan, Goos, Jacqueline AC, Lees, Melissa M, de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert BA, Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia AL, Wieczorek, Dagmar, Study, The Deciphering Developmental Disorders, Baralle, Diana, Blair, Edward M, Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs WE, Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M, Cremer, Kirsten, Strom, Tim M, Bird, Lynne M, Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F, Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L, Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S, Edery, Patrick, Yap, Patrick, Terhal, Paulien A, van der Spek, Peter J, Lakeman, Phillis, Taylor, Rachel L, Littlejohn, Rebecca O, Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander PA, Kant, Sarina G, McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid MA, Douzgou, Sofia, Wall, Steven A, Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J, Twigg, Stephen RF, Mathijssen, Irene MJ, Nellaker, Christoffer, Brunner, Han G, Wilkie, Andrew OM

المصدر: American Journal of Human Genetics. 102(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Brain Disorders, Human Genome, Neurosciences, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Base Sequence, Cell Line, Child, Child, Preschool, Facies, Female, Genetic Association Studies, Humans, Infant, Inheritance Patterns, Loss of Function Mutation, Male, Neurodevelopmental Disorders, Protein Kinases, RNA, Messenger, Translocation, Genetic, Young Adult, Deciphering Developmental Disorders Study, Tousled-like, facial averaging, haploinsufficiency, intellectual disability, kinase, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9sv477rx
https://escholarship.org/content/qt9sv477rx/qt9sv477rx.pdf

المؤلفون: Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, WH Irwin, Patin, Etienne, Meyts, Ewa Rajpert-De, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu

المصدر: Human Molecular Genetics. 27(7)

مصطلحات موضوعية: Rare Diseases, Contraception/Reproduction, Infertility, Clinical Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, 46, XX Disorders of Sex Development, Adolescent, Child, Disorder of Sex Development, 46, XY, Female, Humans, Male, Mutation, Missense, Oligospermia, Primary Ovarian Insufficiency, SOXE Transcription Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/41s0n02d
https://escholarship.org/content/qt41s0n02d/qt41s0n02d.pdf

المؤلفون: Bolard, Vincent

المصدر: Revue de l'Arbitrage; August 2024, Vol. 2024 Issue: 1 p83-110, 28p

المؤلفون: Babinet, Marie-Noëlle, Thomas, Nadine, Pons, Linda, Schluth-Bolard, Caroline, Sanlaville, Damien, Demily, Caroline

المصدر: Psychiatric Genetics; Oct2023, Vol. 33 Issue 5, p202-205, 4p

المؤلفون: Bouassida, Malek, Egloff, Matthieu, Levy, Jonathan, Chatron, Nicolas, Bernardini, Laura, Le Guyader, Gwenaël, Tabet, Anne-Claude, Schluth-Bolard, Caroline, Brancati, Francesco, Giuffrida, Maria Grazia, Dard, Rodolphe, Clorennec, Juliette, Coursimault, Juliette, Vialard, François, Hervé, Bérénice

المصدر: European Journal of Human Genetics: EJHG; August 2023, Vol. 31 Issue: 8 p895-904, 10p

المؤلفون: Tazi, M A, Faivre, J, Lejeune, C, Bolard, P, Phelip, J-M, Benhamiche, A-M

المصدر: European Journal of Cancer Prevention, 1999 Apr 01. 8(2), 131-135.

URL الوصول: https://www.jstor.org/stable/45050583

المؤلفون: Rath, Phalguni, Kramer, Philipp, Biggs, Daniel, Preece, Chris, Hortin, Nicole, Diaz, Rebeca, Perez-Alcantara, Marta, Li, Xiang, Bolard, Arnaud, Beer, Nicola, McCarthy, Mark, Davies, Benjamin

المصدر: Stem Cells; January 2025, Vol. 43 Issue: 1

المؤلفون: Bolard, P, Quantin, C, Esteve, J, Faivre, J, Abrahamowicz, M

المصدر: Journal of Clinical Epidemiology ; volume 54, issue 10, page 986-996 ; ISSN 0895-4356

الاتاحة: https://doi.org/10.1016/s0895-4356(01)00363-8
https://api.elsevier.com/content/article/PII:S0895435601003638?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0895435601003638?httpAccept=text/plain

المؤلفون: Quantin, C., Sauleau, E., Bolard, P., Mousson, C., Kerkri, M., Lecomte, P.Brunet, Moreau, T., Dusserre, L.

المصدر: Journal of Clinical Epidemiology ; volume 52, issue 3, page 251-258 ; ISSN 0895-4356

الاتاحة: https://doi.org/10.1016/s0895-4356(98)00164-4
https://api.elsevier.com/content/article/PII:S0895435698001644?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0895435698001644?httpAccept=text/plain

المؤلفون: Dellinger, A, Bolard, P.

المصدر: Pratiques et Organisation des Soins. 2010, 41(4), p. 341-348.

الاتاحة: https://www.cairn.info/revue-pratiques-et-organisation-des-soins-2010-4-page-341.htm

المؤلفون: Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Mégarbané, André, Toutain, Annick

المصدر: European Journal of Human Genetics: EJHG; March 2020, Vol. 28 Issue: 3 p324-332, 9p

المؤلفون: Conrad, Mireille, Bolard, Grégory, Nowak, Marie, De Bari, Berardino, Jeanneret-Sozzi, Wendy, Bourhis, Jean, Germond, Jean-François, Bochud, François, Moeckli, Raphaël

المصدر: Zeitschrift für Medizinische Physik; Dec2018, Vol. 28 Issue 4, p276-285, 10p

المؤلفون: Pons, Linda, Bouvagnet, Patrice, Bakloul, Mohamed, Di Filippo, Sylvie, Buisson, Adrien, Chatron, Nicolas, Labalme, Audrey, Metton, Olivier, Mitchell, Julia, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanlaville, Damien, Schluth-Bolard, Caroline

المصدر: Molecular Syndromology; July 2019, Vol. 10 Issue: 4 p209-213, 5p

المؤلفون: Chatron, Nicolas, Schluth‐Bolard, Caroline, Frétigny, Mathilde, Labalme, Audrey, Vilchez, Gaëlle, Castet, Sabine‐Marie, Négrier, Claude, Sanlaville, Damien, Vinciguerra, Christine, Jourdy, Yohann

المصدر: Journal of Thrombosis and Haemostasis; July 2019, Vol. 17 Issue: 7 p1097-1103, 7p

المؤلفون: Bolard, Émile. Auteur du texte

المصدر: Bibliothèque nationale de France, département Littérature et art, YE-38806, 1871-1873.

Relation: Notice d'ensemble : http://catalogue.bnf.fr/ark:/12148/cb30123387d; Notice du catalogue : http://catalogue.bnf.fr/ark:/12148/cb30123387d

URL الوصول: http://gallica.bnf.fr/ark:/12148/bpt6k55635097

المؤلفون: Bolard, Émile. Auteur du texte

المصدر: Bibliothèque nationale de France, département Littérature et art, YE-38804, 1871-1873.

Relation: Notice d'ensemble : http://catalogue.bnf.fr/ark:/12148/cb30123387d; Notice du catalogue : http://catalogue.bnf.fr/ark:/12148/cb30123387d

URL الوصول: http://gallica.bnf.fr/ark:/12148/bpt6k5564997h

المؤلفون: Bolard, Émile. Auteur du texte

المصدر: Bibliothèque nationale de France, département Littérature et art, YE-38805, 1871-1873.

Relation: Notice d'ensemble : http://catalogue.bnf.fr/ark:/12148/cb30123387d; Notice du catalogue : http://catalogue.bnf.fr/ark:/12148/cb30123387d

URL الوصول: http://gallica.bnf.fr/ark:/12148/bpt6k5563507d