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pro vyhledávání: '"Keung C"'
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Autor:
Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.
Publikováno v:
American Journal of Human Genetics, 110(6), 963-978. Cell Press
American Journal of Human Genetics, 110, 6, pp. 963-978
American Journal of Human Genetics, 110, 963-978
American Journal of Human Genetics, 110, 6, pp. 963-978
American Journal of Human Genetics, 110, 963-978
Item does not contain fulltext De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the complete phenotype and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8143c733f6eac531e487435c91e46cb2
https://doi.org/10.1016/j.ajhg.2023.04.008
https://doi.org/10.1016/j.ajhg.2023.04.008
Autor:
Keung C; School of Clinical Sciences, Monash University, Australia; Department of Gastroenterology, Monash Health, Australia; The Ritchie Centre, Hudson Institute of Medical Research, Australia. Electronic address: Charlotte.Keung@monashhealth.org., Nguyen TC; Department of Colorectal Surgery, Monash Health, Australia., Lim R; The Ritchie Centre, Hudson Institute of Medical Research, Australia., Gerstenmaier A; Department of Radiology, Monash Health, Australia., Sievert W; School of Clinical Sciences, Monash University, Australia; Department of Gastroenterology, Monash Health, Australia., Moore GT; School of Clinical Sciences, Monash University, Australia; Department of Gastroenterology, Monash Health, Australia.
Publikováno v:
EBioMedicine [EBioMedicine] 2023 Dec; Vol. 98, pp. 104879. Date of Electronic Publication: 2023 Dec 01.
Akademický článek
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Autor:
Zentner D; Department of Medicine (RMH), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australia; Department of Cardiology, Royal Melbourne Hospital, Melbourne, Vic, Australia. Electronic address: dominica.zentner@mh.org.au., Phan K; Department of Cardiology, Royal Melbourne Hospital, Melbourne, Vic, Australia., Gorelik A; Department of Medicine (RMH), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australia; Monash Department of Clinical Epidemiology, Cabrini Institute, Cabrini Health Department of Epidemiology and Preventive Medicine, School of Public Health & Preventive Medicine, Monash University, Melbourne, Vic, Australia., Keung C; Department of Gastroenterology and Hepatology, Royal Melbourne Hospital, Melbourne, Vic, Australia; Department of Gastroenterology, Eastern Health, Melbourne, Vic, Australia., Grigg L; Department of Cardiology, Royal Melbourne Hospital, Melbourne, Vic, Australia., Sood S; Department of Medicine (RMH), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australia; Department of Gastroenterology and Hepatology, Royal Melbourne Hospital, Melbourne, Vic, Australia., Gibson R; Department of Radiology, Royal Melbourne Hospital, Melbourne, Vic, Australia; Department of Medical Imaging, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australia., Nicoll AJ; Department of Gastroenterology and Hepatology, Royal Melbourne Hospital, Melbourne, Vic, Australia; Department of Gastroenterology, Eastern Health, Melbourne, Vic, Australia.
Publikováno v:
Heart, lung & circulation [Heart Lung Circ] 2023 Apr; Vol. 32 (4), pp. 535-543. Date of Electronic Publication: 2023 Jan 13.
Akademický článek
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Publikováno v:
Scandinavian Journal of Gastroenterology; Apr2022, Vol. 57 Issue 4, p432-438, 7p
Autor:
Meade ZS; Carle Illinois College of Medicine, University of Illinois Urbana-Champaign, IL; General Surgery Department, Navy Medicine Readiness and Training Command San Diego, San Diego, CA. Electronic address: Zachary.S.Meade@gmail.com., Li HW; Department of Surgery, Washington University School of Medicine, St. Louis, MO., Allison H; Department of Surgery, Indiana University, Indianapolis, IN., Bhatia MB; Department of Surgery, Indiana University, Indianapolis, IN., Joplin TS; Department of Surgery, Indiana University, Indianapolis, IN., Simon C; College of Medicine, University of Illinois at Chicago, Chicago, IL., Darkwa L; College of Medicine, University of Illinois at Chicago, Chicago, IL., Keung C; Department of Surgery, Indiana University, Indianapolis, IN., McDow AD; Department of Surgery, Indiana University, Indianapolis, IN.
Publikováno v:
Surgery [Surgery] 2022 Dec; Vol. 172 (6), pp. 1665-1672. Date of Electronic Publication: 2022 Sep 17.
Autor:
Bhatia MB; Indiana University, Department of Surgery, Indianapolis, Indiana. Electronic address: manishab917@gmail.com., Darkwa L; University of Illinois Chicago, School of Medicine, Chicago, Illinois., Simon C; University of Illinois Chicago, School of Medicine, Chicago, Illinois., Li HW; Washington University School of Medicine in St. Louis, Department of Surgery, Washington University School of Medicine, St. Louis, Missouri., Allison H; Indiana University, Department of Surgery, Indianapolis, Indiana., Joplin TS; Indiana University, Department of Surgery, Indianapolis, Indiana., Meade ZS; Carle Illinois College of Medicine, Champaign, Illinois., Keung C; Indiana University, Department of Surgery, Indianapolis, Indiana., McDow AD; Indiana University, Department of Surgery, Indianapolis, Indiana.
Publikováno v:
The Journal of surgical research [J Surg Res] 2022 Nov; Vol. 279, pp. 442-452. Date of Electronic Publication: 2022 Jul 13.
Akademický článek
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