Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Levinus A Bok"'
Autor:
Vincent J T Peters, Bert R Meijboom, Jan Erik H Bunt, Levinus A Bok, Marianne W van Steenbergen, J Peter de Winter, Esther de Vries
Publikováno v:
PLoS ONE, Vol 15, Iss 11, p e0242418 (2020)
BackgroundPeople with chronic conditions have complex healthcare needs that lead to challenges for adequate healthcare provision. Current healthcare services do not always respond adequately to their needs. A modular perspective, in particular provid
Externí odkaz:
https://doaj.org/article/33371606c5574cf2a76026a5f15a071e
Autor:
Tom S Koemans, Tjitske Kleefstra, Melissa C Chubak, Max H Stone, Margot R F Reijnders, Sonja de Munnik, Marjolein H Willemsen, Michaela Fenckova, Connie T R M Stumpel, Levinus A Bok, Margarita Sifuentes Saenz, Kyna A Byerly, Linda B Baughn, Alexander P A Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M Kramer
Publikováno v:
PLoS Genetics, Vol 13, Iss 10, p e1006864 (2017)
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical fea
Externí odkaz:
https://doaj.org/article/26d29c313d794c028bbddea2f1fec792
Autor:
Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Fei Chen, Shuyuan Zhang, Andrew S Chung, Liem H Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A Bok, Meriel McEntagart, Evelien F Gevers, Shari G Birnbaum, Amelia J Eisch, Craig M Powell, Woo-Ping Ge, Gijs WE Santen, Maria Chahrour, Hao Zhu
Publikováno v:
eLife, Vol 6 (2017)
Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders
Externí odkaz:
https://doaj.org/article/ed40f28284084f4c913b487a3f35a670
Autor:
Vincent J. T. Peters, Levinus A. Bok, Lieke de Beer, Joyce J. M. van Rooij, Bert R. Meijboom, Jan Erik H. Bunt
Publikováno v:
Journal of Applied Research in Intellectual Disabilities, 35(5), 1208-1216. Wiley-Blackwell
BackgroundTransitioning from paediatric medical care to adult care is a challenging process for children, parents and healthcare professionals. The aim of this study was to explore the experiences, concerns and needs of parents of children with Down
Autor:
Laura A. Tseng, Jose E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer, Daniela Buhas, Hans Hartmann, Emma J. Footitt, Sabine Grønborg, Mirian C.H. Janssen, Nicola Longo, Roelineke J. Lunsing, Alex E. MacKenzie, Frits A. Wijburg, Sidney M. Gospe, Curtis R. Coughlin, Clara D.M. van Karnebeek
Publikováno v:
Molecular Genetics and Metabolism, 135, 350-356
Molecular Genetics and Metabolism, 135, 4, pp. 350-356
Molecular Genetics and Metabolism, 135(4), 350-356. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism, 135(4), 350-356. Academic Press Inc.
Molecular Genetics and Metabolism, 135, 4, pp. 350-356
Molecular Genetics and Metabolism, 135(4), 350-356. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism, 135(4), 350-356. Academic Press Inc.
Contains fulltext : 248229.pdf (Publisher’s version ) (Closed access) BACKGROUND: Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual deve
Autor:
Therese van Amelsvoort, Michiel L. Houben, Emy S. van der Valk Bouman, Erik Boot, Myrthe A. Nuijts, Emma N. M. M. von Scheibler, Pit Vermeltfoort, Tos T. J. M. Berendschot, Levinus A. Bok, Agnies M. van Eeghen, Noël J.C. Bauer, Michelle B. van Egmond-Ebbeling
Publikováno v:
American Journal of Medical Genetics, Part A, 188(2), 569-578. Wiley-Liss Inc.
von Scheibler, E N M M, van der Valk Bouman, E S, Nuijts, M A, Bauer, N J C, Berendschot, T T J M, Vermeltfoort, P, Bok, L A, van Eeghen, A M, Houben, M L, van Amelsvoort, T A M J, Boot, E & van Egmond-Ebbeling, M B 2022, ' Ocular findings in 22q11.2 deletion syndrome : A systematic literature review and results of a Dutch multicenter study ', American Journal of Medical Genetics, Part A, vol. 188, no. 2, pp. 569-578 . https://doi.org/10.1002/ajmg.a.62556
von Scheibler, E N M M, van der Valk Bouman, E S, Nuijts, M A, Bauer, N J C, Berendschot, T T J M, Vermeltfoort, P, Bok, L A, van Eeghen, A M, Houben, M L, van Amelsvoort, T A M J, Boot, E & van Egmond-Ebbeling, M B 2022, ' Ocular findings in 22q11.2 deletion syndrome : A systematic literature review and results of a Dutch multicenter study ', American Journal of Medical Genetics, Part A, vol. 188, no. 2, pp. 569-578 . https://doi.org/10.1002/ajmg.a.62556
The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births. Manifestations show a marked variability in expression and include speech- and language delay, intellectual disability, and neurop
Autor:
Hans E. H. Pruijs, Adelgunde V.C.M. Zeegers, Levinus A. Bok, Florens Q. M. P. van Douveren, Frederike E.C.M. Mulder
Publikováno v:
Journal of Children's Orthopaedics
Purpose The aim of this study was to retrospectively analyze the effect of the Sharrard procedure on hip instability in children with Down syndrome (DS), as measured by the migration index. Methods In total, 17 children (21 hips) were included from s
Autor:
Jo M. Vanoevelen, Jörgen Bierau, Janine C. Grashorn, Ellen Lambrichs, Erik-Jan Kamsteeg, Levinus A. Bok, Ron A. Wevers, Marjo S. van der Knaap, Marianna Bugiani, Junmei Hu Frisk, Rita Colnaghi, Mark O’Driscoll, Debby M. E. I. Hellebrekers, Richard Rodenburg, Carlos R. Ferreira, Han G. Brunner, Arthur van den Wijngaard, Ghada M. H. Abdel-Salam, Liya Wang, Constance T. R. M. Stumpel
Publikováno v:
Acta Neuropathologica, 143(2), 245-262. Springer Verlag
Acta Neuropathologica, 143, 2, pp. 245-262
Acta Neuropathologica, 143, 245-262
Vanoevelen, J M, Bierau, J R, Grashorn, J C, Lambrichs, E, Kamsteeg, E-J, Bok, L A, Wevers, R A, van der Knaap, M S, Bugiani, M, Frisk, J H, Colnaghi, R, O’Driscoll, M, Hellebrekers, D M E I, Rodenburg, R, Ferreira, C R, Brunner, H G, van den Wijngaard, A, Abdel-Salam, G M H, Wang, L & Stumpel, C T R M 2022, ' DTYMK is essential for genome integrity and neuronal survival ', Acta Neuropathologica, vol. 143, no. 2, pp. 245-262 . https://doi.org/10.1007/s00401-021-02394-0
Acta Neuropathologica, 143(2), 245-262. Springer, Cham
Acta Neuropathologica
Acta Neuropathologica, 143, 2, pp. 245-262
Acta Neuropathologica, 143, 245-262
Vanoevelen, J M, Bierau, J R, Grashorn, J C, Lambrichs, E, Kamsteeg, E-J, Bok, L A, Wevers, R A, van der Knaap, M S, Bugiani, M, Frisk, J H, Colnaghi, R, O’Driscoll, M, Hellebrekers, D M E I, Rodenburg, R, Ferreira, C R, Brunner, H G, van den Wijngaard, A, Abdel-Salam, G M H, Wang, L & Stumpel, C T R M 2022, ' DTYMK is essential for genome integrity and neuronal survival ', Acta Neuropathologica, vol. 143, no. 2, pp. 245-262 . https://doi.org/10.1007/s00401-021-02394-0
Acta Neuropathologica, 143(2), 245-262. Springer, Cham
Acta Neuropathologica
Nucleotide metabolism is a complex pathway regulating crucial cellular processes such as nucleic acid synthesis, DNA repair and proliferation. This study shows that impairment of the biosynthesis of one of the building blocks of DNA, dTTP, causes a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08cbd065e18192d0f5b5094c316c2f74
https://research.vumc.nl/en/publications/967a533e-3190-4119-814a-ebf8e8739321
https://research.vumc.nl/en/publications/967a533e-3190-4119-814a-ebf8e8739321
Autor:
Carola van Pul, Levinus A. Bok, F. J. J. Halbertsma, Rob Westerlaken, Laurien Oosterwijk, Antoine van der Linden
Publikováno v:
The Open Neuroimaging Journal. 13:16-20
Background: CT scans are widely used for their ability to easily and rapidly obtain medical information. However, they are also vulnerable for artifacts. Fortunately, the majority is easily recognizable or is so well known that they are included in d
Autor:
Laura A Tseng, Udo F H Engelke, Marleen C D G Huigen, Leo A J Kluijtmans, Charlotte A Haaxma, David A Koolen, Levinus A Bok, Jason N Wright, Sidney M Gospe, Mirian C H Janssen, Clara D M van Karnebeek, Karlien L M Coene
Publikováno v:
Clinical chemistry, 68(5), 732-735. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 68, 5, pp. 732-735
Clinical Chemistry, 68, 732-735
Clinical Chemistry, 68, 5, pp. 732-735
Clinical Chemistry, 68, 732-735
Contains fulltext : 283153.pdf (Publisher’s version ) (Closed access)