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pro vyhledávání: '"Könst, A. A. M."'
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Autor:
van Dijk, Marie, Mulders, Joyce, Poutsma, Ankie, Könst, Andrea A M, Lachmeijer, Augusta M A, Dekker, Gustaaf A, Blankenstein, Marinus A, Oudejans, Cees B M
Publikováno v:
Nature Genetics; May2005, Vol. 37 Issue 5, p514-519, 6p
Autor:
Leegwater, P. A. J., Boor, P. K. I., Yuan, B. Q., van der Steen, J., Visser, A., Könst, A. A. M., Oudejans, C. B. M., Schutgens, R. B. H., Pronk, J. C., van der Knaap, M. S.
Publikováno v:
Human Genetics; Mar2002, Vol. 110 Issue 3, p279-283, 5p
Autor:
van der Knaap, Marjo S., Leegwater, Peter A. J., Könst, Andrea A.M., Visser, Allerdien, Naidu, Sakkubai, Oudejans, Cees B.M., Schutgens, Ruud B.H., Pronk, Jan C., Könst, Andrea A M
Publikováno v:
Annals of Neurology; 2002, Vol. 51 Issue 2, p264-270, 7p
Autor:
Stogsdill, Jeffrey A.1 (AUTHOR) jeff.stogsdill@sana.com, Harwell, Corey C.2 (AUTHOR), Goldman, Steven A.1,3,4 (AUTHOR) Steven_Goldman@URMC.Rochester.edu
Publikováno v:
Annals of the New York Academy of Sciences. Jul2023, Vol. 1525 Issue 1, p41-60. 20p. 1 Black and White Photograph, 3 Charts, 1 Graph.
Publikováno v:
Journal of Pregnancy. 2/14/2022, p1-12. 12p.
Autor:
Zou, Xinyu1 (AUTHOR), Guo, Laixian1 (AUTHOR), Huang, Lilong1 (AUTHOR), Li, Miao1 (AUTHOR), Zhang, Sheng1 (AUTHOR), Yang, Anren1 (AUTHOR), Zhang, Yu1 (AUTHOR), Zhu, Luying1 (AUTHOR), Zhang, Hongxia1,2 (AUTHOR), Zhang, Juan1,2 (AUTHOR) juanzh74@ldu.edu.cn, Feng, Zhibin3 (AUTHOR) fengzhibin@ldu.edu.cn
Publikováno v:
Applied Microbiology & Biotechnology. Mar2020, Vol. 104 Issue 6, p2545-2559. 15p.
A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter.
Autor:
Hettiaracchchi, D.1, Nethikumara, N.1, Pathirana, B. A. P. S.1, Padeniya, A.2, Dissanayake, V. H. W.1
Publikováno v:
Case Reports in Pediatrics. 7/5/2018, p1-4. 4p.
Autor:
Shih HY; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Department of Biological Sciences, Utah Tech University, Saint George, Utah, USA.; Center for Precision & Functional Genomics, Utah Tech University, Saint George, Utah, USA., Raas Q; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Laboratory of Translational Research for Neurological Disorders, Imagine Institute, Université de Paris, INSERM UMR 1163, Paris, France., Bonkowsky JL; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, Utah, USA.
Publikováno v:
Development, growth & differentiation [Dev Growth Differ] 2024 Jan; Vol. 66 (1), pp. 21-34. Date of Electronic Publication: 2024 Jan 19.
Publikováno v:
Frontiers in Genetics; 6/17/2022, Vol. 13, p1-5, 5p