학술논문
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'학술논문'
에서 검색결과 243건 | 목록
1~20
Academic Journal
Giżewska, Maria ; Inwood, Anita ; Tyčová, Renáta ; Vijay, Suresh ; Fjellbirkeland, Olivia ; van Spronsen, Francjan ; Venegas-Moreno, Eva Maria ; Guilder, Laura ; Burlina, Alberto ; Peters, Heidi ; Potter, Murray ; Grošelj, Urh ; Chakrapani, Anupam ; Bélanger-Quintana, Amaya ; Maillot, François ; Rutsch, Frank ; Arnoux, Jean-Baptiste ; Tchan, Michel ; Ingalls, Kim ; Zhao, Zhenming ; Hughes, Catalina ; Smith, Neil ; Muntau, Ania C.
In Metabolism May 2026 178
Academic Journal
van Spronsen, Francjan ; Peters, Heidi ; Margvelashvili, Lali ; Agladze, Dodo ; Schwartz, Ida Vanessa D. ; Giżewska, Maria ; Hamazaki, Takashi ; Guilder, Laura ; MacDonald, Anita ; Vijay, Suresh ; Inwood, Anita ; Minami, Maria ; Fjellbirkeland, Olivia ; Lund, Allan ; Lah, Melissa ; Thomas, Janet A. ; Longo, Nicola ; Kiykim, Ertuğrul ; Ishige, Mika ; Burlina, Alberto ; Bélanger-Quintana, Amaya ; Rutsch, Frank ; Opladen, Thomas ; Mungan, Halise ; Ezgü, Fatih ; Bratkovic, Drago ; Chakrapani, Anupam ; Ito, Tetsuya ; Guimas, Arlindo ; Zori, Roberto ; Tchan, Michel ; Sacharow, Stephanie ; Oliveira, Anabela ; Janeiro, Patricia ; Guerra, Ixiu-Cabrales ; Plana, Jaume Campistol ; Yıldız, Yılmaz ; Canda, Ebru ; Khan, Aneal ; Vockley, Jerry ; Breilyn, Margo Sheck ; Manti, Filippo ; Larkin, Alex ; Hughes, Catalina ; Liu, Emelline ; Gao, Lan ; Ingalls, Kimberly ; Smith, Neil ; Muntau, Ania C.
In Genetics in Medicine April 2026 28(4)
Academic Journal
Yann Dos Santos; Friedrich Trefz; Maria Giżewska; Annemiek M.J. van Wegberg; Bruno Lefort; François Labarthe; Francjan van Spronsen; François Maillot
Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-12 (2025)
Academic Journal
Michał Patalan; Alicja Leśniak; Justyna Paprocka; Agnieszka Zubkiewicz-Kucharska; Kaja Giżewska-Kacprzak; Marta Glińska; Lidia Babiak-Choroszczak; Maria Giżewska; Robert Śmigiel
Pediatria Polska, Vol 99, Iss 4, Pp 329-334 (2024)
Academic Journal
Evans, Sharon; Singh, Rani; Ahring, Kirsten; Ashmore, Catherine; Daly, Anne; Ford, Suzanne; Gama, Maria Ines; Gizewska, Maria; Hill, Melanie; Ilgaz, Fatma; Jackson, Richard; Newby, Camille; Pinto, Alex; Tosi, Martina; Nas, Ozlem Yilmaz; Zuvadelli, Juri; Macdonald, Anita
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
Academic Journal
Soomann, Maarja ; Bily, Viktor ; Elgizouli, Magdeldin ; Kraemer, Dennis ; Akgül, Gülfirde ; von Bernuth, Horst ; Bloomfield, Markéta ; Brodszki, Nicholas ; Candotti, Fabio ; Förster-Waldl, Elisabeth ; Freiberger, Tomas ; Giżewska, Maria ; Klocperk, Adam ; Kölsch, Uwe ; Nichols, Kim E. ; Krüger, Renate ; Oak, Ninad ; Pac, Małgorzata ; Prader, Seraina ; Schmiegelow, Kjeld ; Šedivá, Anna ; Sogkas, Georgios ; Stittrich, Anna ; Stoltze, Ulrik Kristoffer ; Theodoropoulou, Katerina ; Wadt, Karin ; Wong, Melanie ; Zeyda, Maximillian ; Pachlopnik Schmid, Jana ; Trück, Johannes
In The Journal of Allergy and Clinical Immunology November 2024 154(5):1313-1324
Academic Journal
Publisher: Wiley-Blackwell ISSN: 0141-8955
Academic Journal
Ahring, Kirsten ; Bélanger-Quintana, Amaya ; Burlina, Alberto ; Giżewska, Maria ; Maillot, Francois ; Muntau, Ania ; Roscher, Anne ; MacDonald, Anita
In Molecular Genetics and Metabolism January 2024 141(1)
Academic Journal
Polish Society of Phenylketonuria; Witalis, Ewa; Mikoluc, Bożena; Motkowski, Radoslaw; Szyszko, Justyna; Chrobot, Agnieszka; Didycz, Bozena; Lange, Agata; Mozrzymas, Renata; Milanowski, Andrzej; Nowacka, Maria; Piotrowska-Depta, Mariola; Romanowska, Hanna; Starostecka, Ewa; Wierzba, Jolanta; Skorniewska, Magdalena; Wojcicka-Bartlomiejczyk, Barbara Iwona; Gizewska, Maria
Quality of Life Research, 2016 Nov 01. 25(11), 2967-2975.
Academic Journal
Pediatric Endocrinology, Diabetes and Metabolism, Vol 30, Iss 1, Pp 1-2 (2024)
Academic Journal
Kinga Sałacińska; Iwona Pinkier; Lena Rutkowska; Danuta Chlebna-Sokół; Elżbieta Jakubowska-Pietkiewicz; Izabela Michałus; Łukasz Kępczyński; Dominik Salachna; Nina Wieczorek-Cichecka; Małgorzata Piotrowicz; Tatiana Chilarska; Aleksander Jamsheer; Paweł Matusik; Małgorzata Wilk; Elżbieta Petriczko; Maria Giżewska; Iwona Stecewicz; Mieczysław Walczak; Magda Rybak-Krzyszkowska; Andrzej Lewiński; Agnieszka Gach
Frontiers in Endocrinology, Vol 14 (2023)
Academic Journal
Justyna Łuczak; Maciej Bagłaj; Piotr Dryjański; Alicja Kalcowska; Nastazja Banaszyk-Pucała; Maria Boczar; Krzysztof Dymek; Małgorzata Fryczek; Kaja Giżewska-Kacprzak; Wojciech Górecki; Andrzej Grabowski; Anna Gregor; Maria Jabłońska; Grzegorz Kowalewski; Magdalena Lewandowska; Maria Małowiecka; Anna Ogorzałek; Magdalena Pękalska; Aneta Piotrowska-Gall; Mateusz Porębski; Marek Siewiński; Dariusz Patkowski
Current Oncology, Vol 29, Iss 3, Pp 1488-1500 (2022)
Academic Journal
Bernstein, Laurie; Hansen, Joyanna; Kogelmann, Christian; Ellerbrok, Margret; Gizewska, Maria; Gaughan, Sommer; Rocha, Julio Cesar; Belanger, Amaya; Rohr, Fran
Nutrition and Dietary Supplements. December 31, 2021, Vol. 13, p145, 9 p.
Academic Journal
Hillert, Alicia ; Anikster, Yair ; Belanger-Quintana, Amaya ; Burlina, Alberto ; Burton, Barbara K. ; Carducci, Carla ; Chiesa, Ana E. ; Christodoulou, John ; Đorđević, Maja ; Desviat, Lourdes R. ; Eliyahu, Aviva ; Evers, Roeland A.F. ; Fajkusova, Lena ; Feillet, François ; Bonfim-Freitas, Pedro E. ; Giżewska, Maria ; Gundorova, Polina ; Karall, Daniela ; Kneller, Katya ; Kutsev, Sergey I. ; Leuzzi, Vincenzo ; Levy, Harvey L. ; Lichter-Konecki, Uta ; Muntau, Ania C. ; Namour, Fares ; Oltarzewski, Mariusz ; Paras, Andrea ; Perez, Belen ; Polak, Emil ; Polyakov, Alexander V. ; Porta, Francesco ; Rohrbach, Marianne ; Scholl-Bürgi, Sabine ; Spécola, Norma ; Stojiljković, Maja ; Shen, Nan ; Santana-da Silva, Luiz C. ; Skouma, Anastasia ; van Spronsen, Francjan ; Stoppioni, Vera ; Thöny, Beat ; Trefz, Friedrich K. ; Vockley, Jerry ; Yu, Youngguo ; Zschocke, Johannes ; Hoffmann, Georg F. ; Garbade, Sven F. ; Blau, Nenad
In The American Journal of Human Genetics 6 August 2020 107(2):234-250
Academic Journal
Begemann, Matthias; Rezwan, Faisal I.; Beygo, Jasmin; Docherty, Louise E.; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L.; Kleinle, Stephanie; González Fassrainer, Daniela; Oehl-Jaschkowitz, Barbara; Turner, Claire L.S.; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Ngoc, Can Thi Bich; Dung, Vu Chi; Mehta, Sarju G.; Baynam, Gareth; Hamilton-Shield, Julian P.; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J.G.
J Med Genet
Begemann, M, Rezwan, F I, Beygo, J, Docherty, L E, Kolarova, J, Schroeder, C, Buiting, K, Chokkalingam, K, Degenhardt, F, Wakeling, E L, Kleinle, S, González Fassrainer, D, Oehl-Jaschkowitz, B, Turner, C L S, Patalan, M,Gizewska , M, Binder, G, Bich Ngoc, C T, Chi Dung, V, Mehta, S G, Baynam, G, Hamilton-Shield, J P, Aljareh, S, Lokulo-Sodipe, O, Horton, R, Siebert, R, Elbracht, M, Temple, I K, Eggermann, T & Mackay, D J G 2018, 'Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring', Journal of Medical Genetics, vol. 55, no. 7, pp. 497-504. https://doi.org/10.1136/jmedgenet-2017-105190
Begemann, M, Rezwan, F I, Beygo, J, Docherty, L E, Kolarova, J, Schroeder, C, Buiting, K, Chokkalingam, K, Degenhardt, F, Wakeling, E L, Kleinle, S, González Fassrainer, D, Oehl-jaschkowitz, B, Turner, C L S, Patalan, M,Gizewska , M, Binder, G, Bich Ngoc, C T, Chi Dung, V, Mehta, S G, Baynam, G, Hamilton-shield, J P, Aljareh, S, Lokulo-sodipe, O, Horton, R, Siebert, R, Elbracht, M, Temple, I K, Eggermann, T & Mackay, D J G 2018, ' Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2017-105190
Journal of medical genetics 55(7), 497-504 (2018). doi:10.1136/jmedgenet-2017-105190
Begemann, M, Rezwan, F I, Beygo, J, Docherty, L E, Kolarova, J, Schroeder, C, Buiting, K, Chokkalingam, K, Degenhardt, F, Wakeling, E L, Kleinle, S, González Fassrainer, D, Oehl-Jaschkowitz, B, Turner, C L S, Patalan, M,
Begemann, M, Rezwan, F I, Beygo, J, Docherty, L E, Kolarova, J, Schroeder, C, Buiting, K, Chokkalingam, K, Degenhardt, F, Wakeling, E L, Kleinle, S, González Fassrainer, D, Oehl-jaschkowitz, B, Turner, C L S, Patalan, M,
Journal of medical genetics 55(7), 497-504 (2018). doi:10.1136/jmedgenet-2017-105190
Academic Journal
Lesniak, Alicja; Glinska, Marta; Patalan, Michal; Ostrowska, Iwona; Swirska-Sobolewska, Monika; Gizewska-Kacprzak, Kaja; Kotkowiak, Agata; Lesniak, Anna; Walczak, Mieczyslaw; Smigiel, Robert; Gizewska, Maria
Academic Journal
Allan Bayat; Manuela Pendziwiat; Ewa Obersztyn; Paula Goldenberg; Pia Zacher; Jan Henje Döring; Steffen Syrbe; Amber Begtrup; Artem Borovikov; Artem Sharkov; Aneta Karasińska; Maria Giżewska; Wendy Mitchell; Eva Morava; Rikke S. Møller; Guido Rubboli
Frontiers in Genetics, Vol 12 (2021)
Academic Journal
Brain Sciences, Vol 13, Iss 5, p 829 (2023)
Academic Journal
Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Gokmen-Ozel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Aysegul; MacDonald, Anita
Academic Journal
van Spronsen, Francjan J ; van Wegberg, Annemiek MJ ; Ahring, Kirsten ; Bélanger-Quintana, Amaya ; Blau, Nenad ; Bosch, Annet M ; Burlina, Alberto ; Campistol, Jaime ; Feillet, Francois ; Giżewska, Maria ; Huijbregts, Stephan C ; Kearney, Shauna ; Leuzzi, Vincenzo ; Maillot, Francois ; Muntau, Ania C ; Trefz, Fritz K ; van Rijn, Margreet ; Walter, John H ; MacDonald, Anita
In The Lancet Diabetes & Endocrinology September 2017 5(9):743-756
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[검색어] Gizewska, Maria
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