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1دورية أكاديمية
المؤلفون: Houge, GunnarAff1, IDs41431024016178_cor1, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J., Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L., Konecny, MichalAff11, Aff12, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M., Stojiljkovic, Maja, Buisine, Marie-PierreAff21, Aff22, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M., Haanpää, Maria K., Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, MatthiasAff30, Aff31, Fuhrmann, Nico, Ferreira, Bibiana I.Aff33, Aff34, Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, CécileAff38, Aff39, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T., Laner, Andreas
المصدر: European Journal of Human Genetics. 32(7):858-863
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2دورية أكاديمية
المؤلفون: Boudet-Berquier, JulieAff1, IDs10654024011255_cor1, Demattei, Christophe, Guldner, Laurence, Gallay, Anne, Manouvrier, Sylvie, Botton, JérémieAff5, Aff6, Philippat, Claire, Delva, FleurAff8, Aff9, Bloch, Juliette, Semaille, Caroline, Odent, Sylvie, Perthus, Isabelle, Randrianaivo, Hanitra, Babajko, SylvieAff15, Aff16, Aff17, Barjat, TiphaineAff18, Aff19, Beneteau, Claire, Brennetot, Naima, Garne, Ester, Haddad, Georges, Hocine, Mounia, Lacroix, Isabelle, Leuraud, Klervi, Mench, Michel, Morris, Joan, Patrier, Sophie, Sartelet, Arnaud, Verloes, Alain, Bonaldi, Christophe, Le Barbier, Mélina, Gagnière, Bertrand, Pépin, Philippe, Ollivier, Ronan, Bitoun, Monique, King, Lisa, Guajardo-Villar, Andrea, Gomes, Eugenia, Desenclos, Jean-Claude, Regnault, Nolwenn, Benachi, Alexandra
المصدر: European Journal of Epidemiology. 39(7):753-771
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3دورية أكاديمية
المؤلفون: Palmer, Elizabeth, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan, Chedrawi, Aziza, Hashem, Mais, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer, Sands, Tristan, Wilson, Golder, Silvertooth, Erin, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein, Ockeloen, Charlotte, Pfundt, Rolph, Kroft, Sanne, Field, Michael, Laranjeira, Francisco, Fortuna, Ana, Soares, Ana, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David, Bird, Lynne, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe, Blazo, Maria, Bijlsma, Emilia, Rosenfeld, Jill, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb, Armstrong, Ruth, Kalscheuer, Vera
المصدر: Molecular Psychiatry. 28(2)
مصطلحات موضوعية: Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6039092w
https://escholarship.org/content/qt6039092w/qt6039092w.pdf -
4دورية أكاديمية
المؤلفون: Donzel, Marie, Gaillot-Durand, LucieAff1, Aff2, Joubert, Madeleine, Aziza, JacquelineAff2, Aff4, Beneteau, Claire, Mauduit, Claire, Ploteau, Stéphane, Hajri, Touria, Bolze, Pierre-AdrienAff7, Aff2, Massardier, JérômeAff8, Aff2, Devouassoux-Shisheboran, MojganAff1, Aff2, Sunde, Lone, Allias, FabienneAff1, Aff2, IDs0042802303638y_cor13
المصدر: Virchows Archiv: European Journal of Pathology. 483(5):709-715
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5دورية أكاديمية
المؤلفون: Sy, Mary, Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti-Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille, Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos, Kuwahara, Akela, Zhao, Xiaonan, Luna, Pamela, Shaw, Chad, Rosenfeld, Jill, Scott, Daryl, Bush, Jeffrey
المصدر: American Journal of Medical Genetics Part A. 188(12)
مصطلحات موضوعية: Fanconi anemia, NRXN1, TCF4, esophageal atresia, exome sequencing, tracheoesophageal fistula, Humans, Tracheoesophageal Fistula, Esophageal Atresia, Exome, Exome Sequencing
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4776v05t
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6دورية أكاديمية
المؤلفون: Hardcastle, Amy, Berry, Aliska, Campbell, Ian, Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda, Rosenfeld, Jill, Sisoudiya, Saumya, Hernandez-Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria, Capolino, Rossella, Digilio, Maria, Graziani, Ludovico, Rustad, Cecilie, Neas, Katherine, Ferrero, Giovanni, Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic, Dean, John, Giuffrida, Maria, Bernardini, Laura, Varghese, Vinod, Shannon, Nora, Harrison, Rachel, Lam, Wayne, McKee, Shane, Turnpenny, Peter, Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad, Chung, Wendy, Scott, Daryl, Jones, Marilyn
المصدر: American Journal of Medical Genetics Part A. 188(10)
مصطلحات موضوعية: CREBBP, DECIPHER database, SMARCA4, UBA2, USP9X, congenital diaphragmatic hernia, Animals, DNA Copy Number Variations, Diaphragm, Hernias, Diaphragmatic, Congenital, Mice
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0643544f
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7دورية أكاديمية
المؤلفون: Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P, Filges, Isabel, Sparks, Teresa N, Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C, Collardeau‐Frachon, Sophie, Dempsey, Esther A, Dufke, Andreas, Duyzend, Michael Henri, Ghosh, Mirna, Giordano, Jessica L, Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G, Ladewig, Markus S, Munoz‐Torres, Monica C, Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A, Wapner, Ronald J, Zemet, Roni, Haendel, Melissa A, Robinson, Peter N
المصدر: American Journal of Medical Genetics Part C Seminars in Medical Genetics. 190(2)
مصطلحات موضوعية: Genetics, Human Genome, Clinical Research, Congenital Structural Anomalies, Prevention, Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Reproductive health and childbirth, Good Health and Well Being, Infant, Newborn, Humans, Female, Pregnancy, Placenta, Computational Biology, Phenotype, Rare Diseases, Exome Sequencing, HPO, human phenotype ontology, GA4GH Phenopacket, prenatal diagnosis, fetal pathology, prenatal phenotyping, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9m25x832
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8دورية أكاديمية
المؤلفون: Scala, Marcello, Khan, Kamal, Beneteau, Claire, Fox, Rachel G., von Hardenberg, Sandra, Khan, Ayaz, Joubert, Madeleine, Fievet, Lorraine, Musquer, Marie, Le Vaillant, Claudine, Holsclaw, Julie Korda, Lim, Derek, Berking, Ann-Cathrine, Accogli, Andrea, Giacomini, Thea, Nobili, Lino, Striano, Pasquale, Zara, Federico, Torella, Annalaura, Nigro, Vincenzo, Cogné, Benjamin, Salick, Max R., Kaykas, Ajamete, Eggan, Kevin, Capra, Valeria, Bézieau, Stéphane, Davis, Erica E., Wells, Michael F.
المصدر: In Genetics in Medicine April 2024 26(4)
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9دورية 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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10دورية أكاديمية
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: In The American Journal of Human Genetics 7 December 2023 110(12):2015-2028