Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Marja Wessels"'
Autor:
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
The protein SLITRK2 plays an important role in synaptic communication. This study identifies X-linked SLITRK2 variants that underlie neurodevelopmental disorders by impairing excitatory synapses.
Externí odkaz:
https://doaj.org/article/939b1e803648458f978aa0c525329996
Autor:
Marlies JE. Kempers, Marja Wessels, An Van Berendoncks, Ingrid MBH. van de Laar, Nicole de Leeuw, Bart Loeys
Publikováno v:
European journal of medical genetics
European Journal of Medical Genetics, 65(10):104593. Elsevier Masson
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 10
European Journal of Medical Genetics, 65(10):104593. Elsevier Masson
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 10
Contains fulltext : 284810.pdf (Publisher’s version ) (Open Access) INTRODUCTION: The diagnosis of Ehlers-Danlos syndrome is usually based on well-defined diagnostic criteria and the result of DNA investigation. Classical (cEDS) and vascular type (
Autor:
Aurelie Carabalona, Henna Kallo, Liliia Andriichuk, Maryanne Gonzalez, Ellinoora Elomaa, Florence Molinari, Christiana Fragkou, Pekka Lappalainen, Marja Wessels, Juha Saarikangas, Claudio Rivera
Publikováno v:
SSRN Electronic Journal.
The cerebral cortex is responsible for higher cognitive functions. Its correct development depends on coordinated asymmetric division cycles by polarized radial glial progenitor cells. Mitotic defects in neuronal stem cells are linked to the aetiolog
Autor:
Geeske van Woerden, Richelle Senden, Charlotte de Konink, Rossella Avagliano Trezza, anwar baban, Jennifer Bassetti, Yolande Van Bever, Lynne Bird, Bregje van Bon, Alice Brooks, Qiaoning Guan, Eric Klee, Carlo Marcelis, Joel Morales-Rosado, Lisa Schimmenti, Amy Shikany, Paulien Terhal, Kathryn Weaver, Marja Wessels, Hester van Wieringen, Anna Hurst, Catherine Gooch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, Serwet Demirdas
Mitogen-Activated Protein 3 Kinase 7 (MAP3K7, MIM 602614) encodes the ubiquitously expressed transforming growth factor β (TGF-β)–activated kinase 1 (TAK1), which plays a crucial role in many cellular processes. Variants in the MAP3K7 gene have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d071d1b505bd9fbdcafd98c20546d9e3
https://doi.org/10.22541/au.163741470.06165246/v1
https://doi.org/10.22541/au.163741470.06165246/v1
Autor:
Russell A, Gould, Hamza, Aziz, Courtney E, Woods, Manuel Alejandro, Seman-Senderos, Elizabeth, Sparks, Christoph, Preuss, Florian, Wünnemann, Djahida, Bedja, Cassandra R, Moats, Sarah A, McClymont, Rebecca, Rose, Nara, Sobreira, Hua, Ling, Gretchen, MacCarrick, Ajay Anand, Kumar, Ilse, Luyckx, Elyssa, Cannaerts, Aline, Verstraeten, Hanna M, Björk, Ann-Cathrin, Lehsau, Vinod, Jaskula-Ranga, Henrik, Lauridsen, Asad A, Shah, Christopher L, Bennett, Patrick T, Ellinor, Honghuang, Lin, Eric M, Isselbacher, Christian Lacks, Lino Cardenas, Jonathan T, Butcher, G Chad, Hughes, Mark E, Lindsay, Luc, Mertens, Anders, Franco-Cereceda, Judith M A, Verhagen, Marja, Wessels, Salah A, Mohamed, Per, Eriksson, Seema, Mital, Lut, Van Laer, Bart L, Loeys, Gregor, Andelfinger, Andrew S, McCallion
Publikováno v:
Nature genetics. 51(1)
Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1-2%)
Publikováno v:
Scopus-Elsevier
Netherlands Journal of Medicine, 77(1), 3-9. Van Zuiden Communications
EUR Research Portal
Netherlands Journal of Medicine, 77(1), 3-9. Van Zuiden Communications
EUR Research Portal
Postural orthostatic tachycardia syndrome (POTS) is a condition in which a change from a supine to an upright position causes an abnormally large increase in heart rate which may be accompanied by a variety of physical complaints. We report two cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f06dd8c8ba66a72215e3ac807bcc456f
http://www.scopus.com/inward/record.url?eid=2-s2.0-85061721838&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-85061721838&partnerID=MN8TOARS