Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Anttonen, AK"'
Autor:
Vercammen E, Zamani T, Poeschmann P, Que Dg, Stoica S, Dierickx H, van Rheenen-Flach Le, IliÄ M, Vanparijs P, Ldrissi M, man H, Weber B, Schotten J, Nuradi W, Engelen P, Jochems L, DeBoulle K, De Baets Ggd, Klaassen B, Bekedam D, Dewulf M, KorÅejeva L, Muyldermans K, Coenen M, Bouwens G, Valkenburg Mh, Janssens P, Mestdach F, Topalov D, Wildschut H, Machtelinckx L, Rijnders R, Bovyn T, Albertyn P, Van den Bosch G, Vlaemynck G, Engelen Mc, De Spiegeleer S, BenušienÄ E, Witters K, Top W, Six S, Verschueren S, Martens S, Smet D, Coppens H, Anttonen Ak, Segers N, Badura-Stronka M, Vereecken A, Crnogorac IliÄ Z, Gaugler Senden I, Malniece I, Militaru M, Van Wijngaarden W, Deweert S, Wuyts Km, De Puydt H, Janssens Pm, enakker Es, Castenmiller C, Brezigar A, Momirovska A, Kuyken E, Spiritus T, Vulic R, Willems Pj, Boekweit L, Catry, Culic, Grinfelde I
Publikováno v:
Journal of molecular biomarkers & diagnosis, Los Angeles : OMICS Publishing Group, 2016, Vol. 7, no3, art. no 285 [p. 1-7]
Background: Cell-free DNA (cfDNA) analysis in maternal blood for the detection of fetal Down syndrome is gradually replacing first trimester screening. We present here a large clinical series of 10,000 consecutive pregnancies. Objectives: To study th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5888d2fc2f7693909ea8dcc5c523befe
https://doi.org/10.4172/2155-9929.1000285
https://doi.org/10.4172/2155-9929.1000285
Autor:
Liao, Y, Deprez, L, Anttonen, AK, Maljevic, S, Claes, L, Hristova, D, Jordanova, A, Ala-Mello, S, Liukkonen, E, Gaily, E, Bellan-Koch, A, Blazevic, D, Schubert, S, Thomas, EA, Petrou, S, Ahonen, VE, De Joghe, P, Lehesejoki, AE, Lerche, H
Publikováno v:
Aktuelle Neurologie; 20240101, Issue: Preprints
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE, Liao, Y, Anttonen, A-K, Liukkonen, E, Gaily, E, Maljevic, S, Schubert, S, Bellan-Koch, A, Petrou, S, Ahonen, V E
Publikováno v:
Neurology; 10/19/2010, Vol. 75 Issue 16, p1454-1458, 5p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Juho Pitkonen, Asta Laiho, Noora Putkonen, Anna-Kaisa Anttonen, Adriana Gentile, Maija L. Castrén, Juha-Pekka Pursiheimo, Doug Ethell, Yolanda de Diego-Otero
Publikováno v:
Cells
Volume 9
Issue 2
Cells, Vol 9, Iss 2, p 289 (2020)
Volume 9
Issue 2
Cells, Vol 9, Iss 2, p 289 (2020)
A triplet repeat expansion leading to transcriptional silencing of the FMR1 gene results in fragile X syndrome (FXS), which is a common cause of inherited intellectual disability and autism. Phenotypic variation requires personalized treatment approa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cddcb0888607d9127feaea578c4c1411
Autor:
Hotakainen R; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Järvinen T; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kettunen K; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Anttonen AK; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Jakkula E; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. Electronic address: eveliina.salminen@helsinki.fi.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct 25, pp. 101304. Date of Electronic Publication: 2024 Oct 25.
Autor:
Strang-Karlsson S; Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland., Keigwin S; Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK., Anttonen AK; Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland., Baker D; Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK., Bean K; Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK., Jakkula E; Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland.; Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland.
Publikováno v:
Clinical case reports [Clin Case Rep] 2022 Oct 11; Vol. 10 (10), pp. e6455. Date of Electronic Publication: 2022 Oct 11 (Print Publication: 2022).
Autor:
Ignatius E; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Puosi R; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Palomäki M; Department of Radiology, HUS Medical Imaging Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Forsbom N; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Pohjanpelto M; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Alitalo T; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Anttonen AK; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Clinical Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Avela K; Department of Clinical Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Haataja L; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Carroll CJ; Genetics Research Centre, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom., Lönnqvist T; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Isohanni P; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland. Electronic address: pirjo.isohanni@helsinki.fi.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2022 Mar; Vol. 37, pp. 1-7. Date of Electronic Publication: 2021 Dec 26.