학술논문
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'학술논문'
에서 검색결과 183건 | 목록
1~20
Academic Journal
Evans, Sharon; Singh, Rani; Ahring, Kirsten; Ashmore, Catherine; Daly, Anne; Ford, Suzanne; Gama, Maria Ines; Giżewska, Maria; Hill, Melanie; Ilgaz, Fatma; Jackson, Richard; Newby, Camille; Pinto, Alex; Tosi, Martina; Nas, Ozlem Yilmaz; Zuvadelli, Juri; MacDonald, Anita
Nutrients. February, 2026, Vol. 18 Issue 3
Academic Journal
Dos Santos, Yann; Trefz, Friedrich; Giżewska, Maria; van Wegberg, Annemiek M.J.; Lefort, Bruno; Labarthe, François; van Spronsen, Francjan; Maillot, François
Orphanet Journal of Rare Diseases. 20(1)
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.
Metabolism. 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
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)
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
Academic Journal
Soomann, Maarja, MD; Bily, Viktor, MSc; Elgizouli, Magdeldin, MBBS, PhD; Kraemer, Dennis, MSc; Akgül, Gülfirde, PhD; von Bernuth, Horst, MD, PhD; Bloomfield, Markéta, MD, PhD; Brodszki, Nicholas, MD, PhD; Candotti, Fabio, MD; Förster-Waldl, Elisabeth, MD; Freiberger, Tomas, MD, PhD; Giżewska, Maria, MD, PhD; Klocperk, Adam, MD, PhD; Kölsch, Uwe, MD; Nichols, Kim E., MD; Krüger, Renate, MD; Oak, Ninad, PhD; Pac, Małgorzata, MD, PhD; Prader, Seraina, MD; Schmiegelow, Kjeld, MD; Šedivá, Anna, MD, PhD; Sogkas, Georgios, MD, PhD; Stittrich, Anna, PhD; Stoltze, Ulrik Kristoffer, MD, PhD; Theodoropoulou, Katerina, MD, PhD; Wadt, Karin, MD, PhD; Wong, Melanie, MBBS, PhD; Zeyda, Maximillian, PhD; Pachlopnik Schmid, Jana, MD, PhD; Trück, Johannes, MD, DPhil
The Journal of Allergy and Clinical Immunology. 154(5):1313-1324
Academic Journal
Publisher: Wiley-Blackwell ISSN: 0141-8955
Academic Journal
Stolwijk, Nina N.; Häberle, Johannes; Huidekoper, Hidde H.; Wagenmakers, Margreet A. E. M.; Hollak, Carla E. M.; Bosch, Annet M.; Möslinger, Dorothea; Nassogne, Marie-Cecile; Vanlander, Arnaud; Witters, Peter; Jesina, Pavel; Zeman, Jiri; Lund, Allan M.; Feillet, François; Gramer, Gwendolyn; Grünert, Sarah C.; Kölker, Stefan; Opladen, Thomas; Thimm, Eva; Ziagaki, Athanasia; Skouma, Anastasia; Szakszon, Katalin; Monavari, Ahmad Ardeshir; Procopio, Elena; Rossi, Alessandro; Rubert, Laura; Taurisano, Roberta; Auzenbaha, Madara; Janssen, Mirian; Tangeraas, Trine; Giżewska, Maria; Ferreira, Ana Cristina; Groselj, Urh; Bellusci, Marcello; Martín-Hernández, Elena; de Las Heras, Javier; Felipe, Ana; Murphy, Elaine
J Inherit Metab Dis
the E-IMD and MetabERN Working Group on the Real-World Use of products for UCD Management 2025, ' Mapping challenges in the accessibility of treatment products for urea cycle disorders : A survey of European healthcare professionals ', Journal of Inherited Metabolic Disease, vol. 48, no. 1, e12815 . https://doi.org/10.1002/jimd.12815
the E-IMD and MetabERN Working Group on the Real-World Use of products for UCD Management 2025, ' Mapping challenges in the accessibility of treatment products for urea cycle disorders : A survey of European healthcare professionals ', Journal of Inherited Metabolic Disease, vol. 48, no. 1, e12815 . https://doi.org/10.1002/jimd.12815
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
Leśniak, Alicja; Glińska, Marta; Patalan, Michał; Ostrowska, Iwona; Świrska-Sobolewska, Monika; Giżewska-Kacprzak, Kaja; Kotkowiak, Agata; Leśniak, Anna; Walczak, Mieczysław; Śmigiel, Robert; Giżewska, Maria
Genes. August, 2024, Vol. 15 Issue 8
Academic Journal
Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Bélanger-Quintana, Amaya; Burlina, Alberto; Coşkun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, François; Giżewska, Maria; Gökmen-Özel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Leśniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michał; Rocha, Júlio César; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Strączek, Kamilla; Tokatli, Ayşegül; MacDonald, Anita
Nutrients. July, 2024, Vol. 16 Issue 13
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
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
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
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
Brain Sciences. May, 2023, Vol. 13 Issue 5
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
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] Giżewska, Maria
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