المؤلفون: Unger, Sheila, Ferreira, Carlos, Mortier, Geert, Ali, Houda, Bertola, Débora, Calder, Alistair, Cohn, Daniel, Cormier-Daire, Valerie, Girisha, Katta, Hall, Christine, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V, Warman, Matthew, Superti-Furga, Andrea, Krakow, Deborah

المصدر: The American Journal of Medical Genetics - Part A. 191(5)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1tr437zv

المؤلفون: Allou, Lila^{Aff1, Aff2}, Balzano, Sara^{Aff3, Aff4}, Magg, Andreas^{Aff1, Aff2, Aff5}, Quinodoz, Mathieu^{Aff3, Aff6, Aff7}, Royer-Bertrand, Beryl, Schöpflin, Robert^{Aff1, Aff2}, Chan, Wing-Lee^{Aff2, Aff5}, Speck-Martins, Carlos E., Carvalho, Daniel Rocha, Farage, Luciano, Lourenço, Charles Marques, Albuquerque, Regina, Rajagopal, Srilakshmi, Nampoothiri, Sheela, Campos-Xavier, Belinda, Chiesa, Carole, Niel-Bütschi, Florence, Wittler, Lars, Timmermann, Bernd, Spielmann, Malte^{Aff1, Aff2, Aff16}, Robson, Michael I., Ringel, Alessa, Heinrich, Verena, Cova, Giulia^{Aff1, Aff2}, Andrey, Guillaume^{Aff1, Aff18}, Prada-Medina, Cesar A., Pescini-Gobert, Rosanna, Unger, Sheila, Bonafé, Luisa, Grote, Phillip, Rivolta, Carlo^{Aff3, Aff6, Aff7, Aff20}, Mundlos, Stefan^{Aff1, Aff2, Aff5}, Superti-Furga, Andrea

المصدر: Nature: International weekly journal of science. 592(7852):93-98

المؤلفون: Kumps, Camille^Aff1, Niel Bütschi, Florence, Rapin, Blandine, Baud, David, Pescia, Graziano, Robyr, Daniel, Superti-Furga, Andrea, Unger, Sheila

المصدر: Journal of Human Genetics. 65(11):1035-1038

المؤلفون: Lorne, Hortense, Newman, Christopher J., Unger, Sheila

المصدر: In European Journal of Medical Genetics April 2020 63(4)

المؤلفون: Peter, Virginie G.^{Aff1, Aff2}, Quinodoz, Mathieu^{Aff1, Aff2}, Pinto-Basto, Jorge, Sousa, Sergio B.^{Aff4, Aff5}, Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela^{Aff8, Aff9}, Silva, Eduardo D., Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C.^{Aff6, Aff12}, Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea^Aff13, Rivolta, Carlo^{Aff1, Aff2, Aff15, Aff16}, Campos-Xavier, Belinda

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2734-2743

المؤلفون: Thompson, Eliza, Abdalla, Ebtesam, Superti-Furga, Andrea, McAlister, William, Kratz, Lisa, Unger, Sheila, Royer-Bertrand, Beryl, Campos-Xavier, Belinda, Mittaz-Crettol, Laureane, Amin, Asmaa K., DeSanto, Cori, Wilson, David B., Douglas, Ganka, Kozel, Beth, Shinawi, Marwan

المصدر: In Bone March 2019 120:354-363

المؤلفون: Superti-Furga, Andrea^Aff4, Bonafé, Luisa^Aff5, Unger, Sheila^Aff4

المساهمون: Hoffmann, Georg F., editor^Aff1, Zschocke, Johannes, editor^Aff2, Nyhan, William L., editor^Aff3

المصدر: Inherited Metabolic Diseases : A Clinical Approach. :371-380

المؤلفون: Below, Jennifer E, Earl, Dawn L, Shively, Kathryn M, McMillin, Margaret J, Smith, Joshua D, Turner, Emily H, Stephan, Mark J, Al-Gazali, Lihadh I, Hertecant, Jozef L, Chitayat, David, Unger, Sheila, Cohn, Daniel H, Krakow, Deborah, Swanson, James M, Faustman, Elaine M, Shendure, Jay, Nickerson, Deborah A, Bamshad, Michael J, Genomics, University of Washington Center for Mendelian

المصدر: American Journal of Human Genetics. 92(1)

مصطلحات موضوعية: Genetics, Biotechnology, Clinical Research, Congenital Structural Anomalies, Kidney Disease, Human Genome, Pediatric, Child, Child, Preschool, Female, Genome, Human, Humans, Infant, Infant, Newborn, Male, Mutation, Osteochondrodysplasias, Phosphatidylinositol-3, 4, 5-Trisphosphate 5-Phosphatases, Phosphoric Monoester Hydrolases, University of Washington Center for Mendelian Genomics, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0m17r3zz

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تسجيل الدخول للوصول الكامل.

المؤلفون: Filges, Isabel, Cichon, Sven, Nouspikel, Thierry, Porret, Naomi A, Rauch, Anita, Unger, Sheila

المساهمون: University of Zurich

مصطلحات موضوعية: 10039 Institute of Medical Genetics, 570 Life sciences, biology, human genetics, 610 Medicine & health, Pharmacology (medical), genetic consultation, medical

وصف الملف: ZORA_jf.pdf - application/pdf; bms_2022_21273.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84989a19f81f6bb7e811aca21cca315
https://doi.org/10.5167/uzh-224467