학술논문
'학술논문'
에서 검색결과 53건 | 목록
1~10
Academic Journal
den Hollander, B.; Veenvliet, A.R.J.; Rothuizen-Lindenschot, M.; van Essen, P.; Peters, G.; Santos-Gómez, A.; Olivella, M.; Altafaj, X.; Brands, M.M.; Jacobs, B.A.W.; van Karnebeek, C.D.
In Molecular Genetics and Metabolism March 2023 138(3)
Academic Journal
In European Journal of Paediatric Neurology July 2022 39:25-29
Academic Journal
Matthews, A.M.; Tarailo-Graovac, M.; Price, E.M.; Blydt-Hansen, I.; Ghani, A.; Drögemöller, B.I.; Robinson, W.P.; Ross, C.J.; Wasserman, W.W.; Siden, H.; van Karnebeek, C.D.
In European Journal of Medical Genetics October 2017 60(10):548-552
Academic Journal
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2023, 18(1))
Academic Journal
den Hollander, B.; Brands, M.M.; van Karnebeek, C.D.; van Eeghen, A.M.; Cornel, M.C.; Bruining, H.; Vaz, F.M.; Rothuizen-Lindenschot, M.; Geertjens, L.; Le, H.L.; Jacobs, B.A.W.; van de Ven, P.M.
In: Contemporary Clinical Trials Communications . (Contemporary Clinical Trials Communications, December 2023, 36)
Academic Journal
Haspels, H.N.; van Woensel, J.B.M.; Dulfer, K.; de Hoog, M.; Joosten, K.F.M.; de Lange, A.A.; Alsem, M.W.; Maaskant, J.M.; Sandbergen, B.; van Karnebeek, C.D.
In: European Journal of Pediatrics . (European Journal of Pediatrics, September 2023, 182(9):3833-3843)
Academic Journal
Van De Riet, L.; Otten, M.H.; Van Woensel, J.B.M.; Van Karnebeek, C.D.; Bollen, C.W.; Ter Horst, J.R.; Klein, R.H.; Kuiper, J.W.; Riedijk, M.A.; Verlaat, C.W.M.; Van Waardenburg, D.A.
In: Critical Care Explorations . (Critical Care Explorations, 5 December 2022, 4(12):E0798)
Academic Journal
Hollander, B.D.; Brands, M.M.; van Eeghen, A.M.; van Karnebeek, C.D.; Cornel, M.C.; Bruining, H.; Vaz, F.M.; Rothuizen-Lindenschot, M.; Geertjens, L.; Le, H.L.; Jacobs, B.A.W.; van de Ven, P.M.
In: Contemporary Clinical Trials Communications . (Contemporary Clinical Trials Communications, April 2024, 38)
ZBTB11 dysfunction: Spectrum of brain abnormalities, biochemical signature and cellular consequences
Academic Journal
Sumathipala, D.; Sheng, Y.; Einarsen, I.H.; Frengen, E.; Misceo, D.; Strømme, P.; Fattahi, Z.; Kahrizi, K.; Najmabadi, H.; Lüders, T.; Nilsen, H.; Sloan, J.L.; Venditti, C.P.; Van Den Heuvel, L.; Wevers, R.A.; Van Karnebeek, C.D.; Guerrero-Castillo, S.; Mørkrid, L.; Backe, P.H.; Valayannopoulos, V.
In: Brain . (Brain, 1 July 2022, 145(7):2602-2616)
Academic Journal
Scala, M.; Striano, P.; Kaiyrzhanov, R.; Efthymiou, S.; Genomics, Q.S.; Maroofian, R.; Houlden, H.; Wortmann, S.B.; Kaya, N.; Aldowsari, L.; Alsagob, M.; Alyousef, A.; AlMass, R.; AlHargan, A.; Alqudairy, H.; Alsaif, H.S.; Firdous, A.; Hashem, M.; Alkuraya, F.S.; Stellingwerff, M.D.; van der Knaap, M.S.; Pistorio, A.; Glamuzina, E.; van Karnebeek, C.D.; Skrypnyk, C.; Iwanicka-Pronicka, K.; Piekutowska-Abramczuk, D.; Ciara, E.; Tort, F.; Ribes, A.; Sheidley, B.; Poduri, A.; Jayakar, P.; Jayakar, A.; Upadia, J.; Walano, N.; Haack, T.B.; Prokisch, H.; Aldhalaan, H.; Al-Muhaizea, M.A.; Alshwameen, M.O.; Khan, S.; Karimiani, E.G.; Yildiz, Y.; Ceylan, A.C.; Santiago-Sim, T.; Dameron, A.; Yang, H.; Toosi, M.B.; Akhondian, J.; Ashrafzadeh, F.; Imannezhad, S.; Mirzadeh, H.S.; Maqbool, S.; Farid, A.; Alwadei, A.H.; AlRasheed, M.M.; Colak, D.; Lines, M.A.; García Cazorla, M.Á.; Morava, E.; Bibi, F.; Haider, S.; Ferla, M.P.; Taylor, J.C.; Shashkin, C.; Koneev, K.; Schmitt-Mechelke, T.; Ziegler, A.; Issa, M.Y.; Elbendary, H.M.; Zaki, M.S.; Gleeson, J.G.; Barakat, T.S.; Bierau, J.
In: Human Mutation . (Human Mutation, March 2022, 43(3):403-419)
검색 결과 제한하기
제한된 항목
[AR] Van Karnebeek, C.D.
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어