المؤلفون: Lee, Jaclyn, Huang, Li-Ching, Berry, Lynn, Anderson, Catherine, Amin, Milan, Benninger, Michael, Blumin, Joel, Bock, Jonathan, Bryson, Paul, Castellanos, Paul, Chen, Sheau-Chiann, Clary, Matthew, Cohen, Seth, Crawley, Brianna, Dailey, Seth, Daniero, James, de Alarcon, Alessandro, Donovan, Donald, Edell, Eric, Ekbom, Dale, Fink, Daniel, Franco, Ramon, Garrett, C, Guardiani, Elizabeth, Hillel, Alexander, Hoffman, Henry, Hogikyan, Norman, Howell, Rebecca, Hussain, Lena, Johns, Michael, Kasperbauer, Jan, Khosla, Sid, Kinnard, Cheryl, Kupfer, Robbi, Langerman, Alexander, Lentz, Robert, Lorenz, Robert, Lott, David, Lowery, Anne, Makani, Samir, Maldonado, Fabien, Mannion, Kyle, Matrka, Laura, McWhorter, Andrew, Merati, Albert, Mori, Matthew, Netterville, James, ODell, Karla, Ongkasuwan, Julina, Postma, Gregory, Reder, Lindsay, Rohde, Sarah, Richardson, Brent, Rickman, Otis, Rosen, Clark, Rutter, Michael, Sandhu, Guri, Schindler, Joshua, Schneider, G, Shah, Rupali, Sikora, Andrew, Sinard, Robert, Smith, Marshall, Smith, Libby, Soliman, Ahmed, Sveinsdóttir, Sigríður, Van Daele, Douglas, Veivers, David, Verma, Sunil, Weinberger, Paul, Wootten, Christopher, Shyr, Yu, Francis, David, Gelbard, Alexander, Weissbrod, Philip

المصدر: Annals of Otology, Rhinology and Laryngology. 130(10)

مصطلحات موضوعية: education, iSGS, income, social support, surgical outcomes, time to diagnosis, Adult, Female, Follow-Up Studies, Humans, Laryngoscopy, Laryngostenosis, Male, Middle Aged, Prospective Studies, Recurrence, Social Determinants of Health, Time Factors, Treatment Outcome, United States

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3cn4j99bTest

المؤلفون: Thauvin-Robinet, Christel, Lee, Jaclyn S, Lopez, Estelle, Herranz-Pérez, Vicente, Shida, Toshinobu, Franco, Brunella, Jego, Laurence, Ye, Fan, Pasquier, Laurent, Loget, Philippe, Gigot, Nadège, Aral, Bernard, Lopes, Carla AM, St-Onge, Judith, Bruel, Ange-Line, Thevenon, Julien, González-Granero, Susana, Alby, Caroline, Munnich, Arnold, Vekemans, Michel, Huet, Frédéric, Fry, Andrew M, Saunier, Sophie, Rivière, Jean-Baptiste, Attié-Bitach, Tania, Garcia-Verdugo, Jose Manuel, Faivre, Laurence, Mégarbané, André, Nachury, Maxence V

المصدر: Nature Genetics. 46(8)

مصطلحات موضوعية: Agricultural, Veterinary and Food Sciences, Biological Sciences, Bioinformatics and Computational Biology, Genetics, Agricultural Biotechnology, Rare Diseases, Dental/Oral and Craniofacial Disease, Pediatric, Congenital Structural Anomalies, Cell Line, Centrioles, Child, Preschool, Genetic Predisposition to Disease, HEK293 Cells, Humans, Male, Microcephaly, Microtubule-Associated Proteins, Orofaciodigital Syndromes, Proteins, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

الوصول الحر: https://escholarship.org/uc/item/6jk6n812Test

المؤلفون: Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R., Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J., Herranz-Pérez, Vicente, Lee, Jaclyn S., Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R., Wallingford, John B., Blacque, Oliver E., Nachury, Maxence V., Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel

مصطلحات موضوعية: Male, Heterozygote, Polycystic Kidney Diseases, Proteins, Orofaciodigital Syndromes, Article, Face, Mutation, Humans, Abnormalities, Multiple, Female, Retinitis Pigmentosa, Ciliary Motility Disorders, Encephalocele

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::16a20fd445c24992a2e8ba072ef8383eTest
https://europepmc.org/articles/PMC5557276Test/