Zobrazeno 1 - 10
of 323
pro vyhledávání: '"Beusekom, E. van"'
Autor:
Riemersma, M., Mandel, H., Beusekom, E. van, Gazzoli, I., Roscioli, T., Eran, A., Gershoni-Baruch, R., Gershoni, M., Pietrokovski, S., Vissers, L.E.L.M., Lefeber, D.J., Willemsen, M.A.A.P., Wevers, R.A., Bokhoven, H. van
Publikováno v:
Neurology, 84(21), 2177-2182. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 84, 2177-2182
Neurology, 84, 21, pp. 2177-2182
Neurology, 84, 2177-2182
Neurology, 84, 21, pp. 2177-2182
Item does not contain fulltext OBJECTIVE: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial calcifications. METHODS: Homozygosity mapping and exome sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::91606157071108ecce55f1c3162d4058
https://cris.maastrichtuniversity.nl/en/publications/8b852821-e86d-4e2f-af78-3744ec925afc
https://cris.maastrichtuniversity.nl/en/publications/8b852821-e86d-4e2f-af78-3744ec925afc
Autor:
Hale, Andrew T.1 (AUTHOR) andrewthale@uabmc.edu, Boudreau, Hunter1 (AUTHOR), Devulapalli, Rishi2 (AUTHOR), Duy, Phan Q.3 (AUTHOR), Atchley, Travis J.1 (AUTHOR), Dewan, Michael C.4 (AUTHOR), Goolam, Mubeen5 (AUTHOR), Fieggen, Graham5,6 (AUTHOR), Spader, Heather L.3 (AUTHOR), Smith, Anastasia A.7 (AUTHOR), Blount, Jeffrey P.7 (AUTHOR), Johnston, James M.7 (AUTHOR), Rocque, Brandon G.7 (AUTHOR), Rozzelle, Curtis J.7 (AUTHOR), Chong, Zechen8 (AUTHOR), Strahle, Jennifer M.9 (AUTHOR), Schiff, Steven J.10 (AUTHOR), Kahle, Kristopher T.11 (AUTHOR)
Publikováno v:
Fluids & Barriers of the CNS. 3/4/2024, Vol. 21 Issue 1, p1-135. 135p.
Autor:
Simpson, Claire L.1,2 (AUTHOR) clairelsimpson@uthsc.edu, Kimble, Danielle C.3 (AUTHOR), Chandrasekharappa, Settara C.3 (AUTHOR), Alqosayer, Khalid4 (AUTHOR), Holzinger, Emily1 (AUTHOR), Carrington, Blake5 (AUTHOR), McElderry, John5 (AUTHOR), Sood, Raman5 (AUTHOR), Al‐Souqi, Ghiath6 (AUTHOR), Albacha‐Hejazi, Hasan6 (AUTHOR), Bailey‐Wilson, Joan E.1 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Aug2023, Vol. 11 Issue 8, p1-13. 13p.
Autor:
Saidin, Akzam, Papazovska Cherepnalkovski, Anet, Shaukat, Zeeshan, Arsov, Todor, Hussain, Rashid, Roberts, Ben J., Bucat, Marija, Cogelja, Klara, Ricos, Michael G., Dibbens, Leanne M.
Publikováno v:
Genes; Aug2024, Vol. 15 Issue 8, p1031, 11p
Autor:
Dąbrowska, Justyna1 (AUTHOR), Biedziak, Barbara2 (AUTHOR), Bogdanowicz, Agnieszka2 (AUTHOR), Mostowska, Adrianna1 (AUTHOR) amostowska@ump.edu.pl
Publikováno v:
Journal of Clinical Medicine. Mar2023, Vol. 12 Issue 5, p2051. 13p.
Autor:
Barbaro, Vanessa1 (AUTHOR) vanessa.barbaro@fbov.it, Bonelli, Filippo1 (AUTHOR), Ferrari, Stefano1 (AUTHOR), La Vella, Giulia2 (AUTHOR), Di Iorio, Enzo2,3 (AUTHOR)
Publikováno v:
Cells (2073-4409). Feb2023, Vol. 12 Issue 3, p495. 17p.
Autor:
Ruan, Jingsong1 (AUTHOR), McKee, Karen K.2 (AUTHOR), Yurchenco, Peter D.2 (AUTHOR), Yao, Yao1 (AUTHOR) yao7@usf.edu
Publikováno v:
Fluids & Barriers of the CNS. 12/3/2022, Vol. 19 Issue 1, p1-13. 13p.
Autor:
Liu, Huadie1 (AUTHOR), Craig, Sonya E. L.1 (AUTHOR), Molchanov, Vladimir1 (AUTHOR), Floramo, Joseph S.1 (AUTHOR), Zhao, Yaguang1 (AUTHOR), Yang, Tao1 (AUTHOR) tao.yang@vai.org
Publikováno v:
Cells (2073-4409). Sep2022, Vol. 11 Issue 17, p2710. 17p.
Autor:
Gaertner, Anna1 (AUTHOR) agaertner@hdz-nrw.de, Burr, Lidia1 (AUTHOR) bklauke@hdz-nrw.de, Klauke, Baerbel1 (AUTHOR) abrodehl@hdz-nrw.de, Brodehl, Andreas1 (AUTHOR) jens.tiesmeier@muehlenkreiskliniken.de, Laser, Kai Thorsten2 (AUTHOR) tlaser@hdz-nrw.de, Klingel, Karin3 (AUTHOR) karin.klingel@med.uni-tuebingen.de, Tiesmeier, Jens1 (AUTHOR) uwe.schulz@helios-gesundheit.de, Schulz, Uwe1 (AUTHOR) jgummert@hdz-nrw.de, Knyphausen, Edzard zu2 (AUTHOR) knypoeyn@posteo.de, Gummert, Jan1 (AUTHOR), Milting, Hendrik1 (AUTHOR) agaertner@hdz-nrw.de
Publikováno v:
International Journal of Molecular Sciences. Jun2022, Vol. 23 Issue 12, p6685-6685. 13p.
Autor:
Ashoti, Ator1 (AUTHOR) a.r.o.ashoti@uu.nl, Limone, Francesco2,3 (AUTHOR) a.r.o.ashoti@uu.nl, van Kranenburg, Melissa1 (AUTHOR), Alemany, Anna1 (AUTHOR), Baak, Mirna1 (AUTHOR), Vivié, Judith1,4 (AUTHOR), Piccioni, Frederica5 (AUTHOR), Dijkers, Pascale F.1 (AUTHOR), Creyghton, Menno1 (AUTHOR), Eggan, Kevin2,3 (AUTHOR) a.r.o.ashoti@uu.nl, Geijsen, Niels1 (AUTHOR) a.r.o.ashoti@uu.nl
Publikováno v:
PLoS ONE. 2/17/2022, Vol. 17 Issue 2, p1-23. 23p.