Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Annemarie Sims"'
Publikováno v:
EClinicalMedicine, Vol 73, Iss , Pp 102667- (2024)
Externí odkaz:
https://doaj.org/article/5005063995af4ba88c390aa56e5522c2
Autor:
Sophie Bayley, Diana Le Duc, Richard Rosch, Matthew R.G. Taylor, Jens Erik Klint Nielsen, Joanna Kennedy, Stephanie Oates, Charlotte Brasch-Andersen, Lina Quteineh, Katrina M. Allis, Bitten Schönewolf-Greulich, Deb K. Pal, Jennifer Baulcomb, Karen Low, Michael Absoud, Georgia Vasileiou, Christian Korff, T. Michael Yates, M. Albert Basson, Rikke S. Møller, Pernille Mathiesen Tørring, Christiane Zweier, Meena Balasubramanian, Sushma Goyal, Maximilian Radtke, Bernt Popp, Amy Riddett, Gitte Rønde, Bert Callewaert, Zeynep Tümer, Emily Todd, Ulrike Hüffmeier, Amelle Shillington, Renkui Bai, Annemarie Sims
Publikováno v:
Oates, S, Absoud, M, Goyal, S, Bayley, S, Baulcomb, J, Sims, A, Riddett, A, Allis, K, Brasch-Andersen, C, Balasubramanian, M, Bai, R, Callewaert, B, Hüffmeier, U, Le Duc, D, Radtke, M, Korff, C, Kennedy, J, Low, K, Møller, R S, Nielsen, J E K, Popp, B, Quteineh, L, Rønde, G, Schönewolf-Greulich, B, Shillington, A, Taylor, M R G, Todd, E, Torring, P M, DMSc, Z T M D P D, Vasileiou, G, Yates, T M, Zweier, C, Rosch, R, Basson, M A & Pal, D K 2021, ' ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder ', Clinical Genetics, vol. 100, no. 4, pp. 412-429 . https://doi.org/10.1111/cge.14023
ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 in
Autor:
null Stephanie Oates, null Michael Absoud, null Sushma Goyal, null Sophie Bayley, null Jennifer Baulcomb, null Annemarie Sims, null Amy Riddett, null Katrina Allis, null Charlotte Brasch Andersen, null Meena Balasubramanian, null Renkui Bai, null Bert Callewaert, null Ulrike Hüffmeier, null Diana LeDuc, null Maximilian Radtke, null Christian Korff, null Joanna Kennedy, null Karen Low, null Rikke Møller, null Jens Erik Klint Nielsen, null Bernt Popp, null Lina Quteineh, null Gitte Rønde, null Bitten Schönewolf‐Greulich, null Amelle Shillington, null Matthew R. G. Taylor, null Emily Todd, null Pernille M. Toerring, null Zeynep Tümer, null Georgia Vasileiou, null T. Michael Yates, null Christiane Zweier, null Richard Rosch, null M. Albert Basson, null Deb K. Pal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c251d74ff878d534910555523bb1ddf6
https://doi.org/10.1111/cge.14023/v3/response1
https://doi.org/10.1111/cge.14023/v3/response1
Autor:
Rachael McDonald, Annemarie Sims
Publikováno v:
Scopus-Elsevier
The aim of this paper is to provide an overview of the literature regarding prevention of pressure ulcers in paediatrics to guide evidence-based practice. The paper will focus on two areas: identifying children at risk and preventative strategies. Li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94d9488b9c31e8fa3719e009737fcd9
http://www.scopus.com/inward/record.url?eid=2-s2.0-0642306990&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0642306990&partnerID=MN8TOARS