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1دورية أكاديمية
المؤلفون: Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle
المصدر: In Genetics in Medicine May 2024 26(5)
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2دورية أكاديمية
المؤلفون: Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert
المصدر: In The American Journal of Human Genetics 7 March 2024 111(3):509-528
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3دورية أكاديمية
المؤلفون: Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent
المصدر: European Journal of Human Genetics. 29(9)
مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Digestive Diseases, Liver Disease, Brain Disorders, Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Deafness, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intellectual Disability, Loss of Function Mutation, Male, Membrane Proteins, Mutation, Missense, Pedigree, Phenotype, Syndrome, Care4Rare Canada Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3jk59196
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4دورية أكاديمية
المؤلفون: Li, Dong, March, Michael E, Fortugno, Paola, Cox, Liza L, Matsuoka, Leticia S, Monetta, Rosanna, Seiler, Christoph, Pyle, Louise C, Bedoukian, Emma C, Sánchez-Soler, María José, Caluseriu, Oana, Grand, Katheryn, Tam, Allison, Aycinena, Alicia RP, Camerota, Letizia, Guo, Yiran, Sleiman, Patrick, Callewaert, Bert, Kumps, Candy, Dheedene, Annelies, Buckley, Michael, Kirk, Edwin P, Turner, Anne, Kamien, Benjamin, Patel, Chirag, Wilson, Meredith, Roscioli, Tony, Christodoulou, John, Cox, Timothy C, Zackai, Elaine H, Brancati, Francesco, Hakonarson, Hakon, Bhoj, Elizabeth J
المصدر: Human Genetics. 140(7)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Amino Acid Sequence, Cadherins, Cell Adhesion, Cell Movement, Craniofacial Abnormalities, Female, Foot Deformities, Congenital, Genetic Variation, Hand Deformities, Congenital, Heterozygote, Homozygote, Humans, Hypertelorism, Male, Pedigree, Phenotype, Genetics, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6436982t
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5دورية أكاديمية
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6دورية أكاديمية
المؤلفون: Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-LineAff4, Aff5, Denommé-Pichon, Anne-SophieAff4, Aff5, Faivre, LaurenceAff4, Aff6, Tran Mau-Them, FrédéricAff4, Aff5, Tessarech, Marine, Colin, EstelleAff7, Aff8, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, FrançoisAff1, IDs0043902102383z_cor70
المصدر: Human Genetics. 141(1):65-80
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7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8دورية أكاديمية
المؤلفون: Lierman, Sylvie, Tolpe, Annelies, De Croo, Ilse, De Gheselle, Stefanie, Defreyne, Justine, Baetens, Machteld, Dheedene, Annelies, Colman, Roos, Menten, Björn, T’Sjoen, Guy, De Sutter, Petra, Tilleman, Kelly
المصدر: In Fertility and Sterility October 2021 116(4):1068-1076
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9دورية أكاديمية
المؤلفون: Van Den Bogaert, Kris, Lannoo, Lore, Brison, Nathalie, Gatinois, Vincent, Baetens, Machteld, Blaumeiser, BettinaAff4, Aff5, Boemer, François, Bourlard, Laura, Bours, Vincent, De Leener, Anne, De Rademaeker, Marjan, Désir, JulieAff7, Aff9, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Katrien, Janssens, Sandra, Lederer, Damien, Marichal, Axel, Menten, Björn, Meunier, Colombine, Palmeira, Leonor, Pichon, Bruno, Sammels, Eva, Smits, Guillaume, Sznajer, Yves, Vantroys, Elise, Devriendt, Koenraad, Vermeesch, Joris RobertAff1
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(6):1137-1142
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10دورية أكاديمية
المؤلفون: Pozza, Elise, Verdin, Hannah, Deconinck, Hilde, Dheedene, Annelies, Menten, Björn, De Baere, Elfride, Balikova, Irina
المصدر: In European Journal of Medical Genetics May 2020 63(5)