HONG KONG MASS TRANSIT RAILWAY MODIFIED INITIAL SYSTEM: DESIGN AND CONSTRUCTION OF ABOVE-GROUND WORKS AND TRACKWORK

Autor: Re Couperthwaite, Rl Taylor, Wj Greig, Mj Taylor

Publikováno v: Proceedings of the Institution of Civil Engineers. 68:657-688

The first part of the paper describes the basis of selection of the type of structure for the viaducts of the elevated section of the railway, some of the problems encountered and the design and construction solutions adopted. Likewise the design and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::963a933062b91f08cc28ea08fedb54ac
https://doi.org/10.1680/iicep.1980.2205

High-affinity binding of [3H]acetylcholine to muscarinic cholinergic receptors

Autor: A. M. Martino, R. D. Schwartz, D. P. Hall, RL Taylor, Kenneth J. Kellar

Publikováno v: The Journal of neuroscience : the official journal of the Society for Neuroscience. 5(6)

High-affinity binding of [3H]acetylcholine to muscarinic cholinergic sites in rat CNS and peripheral tissues was measured in the presence of cytisin, which occupies nicotinic cholinergic receptors. The muscarinic sites were characterized with regard

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deaba72c454f72f2e4b822277827e2ad
https://pubmed.ncbi.nlm.nih.gov/4009247

Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant.

Autor: Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia. Electronic address: joshua.clayton@perkins.org.au., Vo C; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Crane J; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia., Saker S; Genethon, DNA and Cell Bank, 91000 Evry, France., Larmonier T; Genethon, DNA and Cell Bank, 91000 Evry, France., Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France., Romero NB; Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Ravenscroft G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Laing NG; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Taylor RL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.

Publikováno v: Stem cell research [Stem Cell Res] 2024 Oct; Vol. 80, pp. 103491. Date of Electronic Publication: 2024 Jul 09.

Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.

Autor: Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Lohmann K; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Borovečki F; Department of Neurology, University Hospital Centre Zagreb, Zagreb, Croatia., Wolstenholme N; EMQN CIC, Unit 4 Enterprise Hse, Manchester Science Park, Manchester, UK., Taylor RL; EMQN CIC, Unit 4 Enterprise Hse, Manchester Science Park, Manchester, UK., Spielmann M; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gerberding M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Holm.Graessner@med.uni-tuebingen.de.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany. Holm.Graessner@med.uni-tuebingen.de.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 1014-1021. Date of Electronic Publication: 2024 Jun 05.

Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Autor: Smith CEL; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK bgycels@leeds.ac.uk., Laugel-Haushalter V; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France., Hany U; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Best S; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Taylor RL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; EMQN CIC, Manchester, UK., Poulter JA; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Wortmann SB; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Feichtinger RG; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria., Mayr JA; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria., Al Bahlani S; Dental & OMFS Clinic, Al Nahdha Hospital, Government of Oman Ministry of Health, Muscat, Oman., Nikolopoulos G; Institute for Fundamental Biomedical Research, BSRC Alexander Fleming, Vari, Greece., Rigby A; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK., Black GC; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK., Watson CM; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Mansour S; Lymphovascular Research Unit, Molecular and Clinical Sciences Research Institute, St George's Hospital, University of London, London, UK.; SW Thames Regional Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK., Inglehearn CF; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Mighell AJ; School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK., Bloch-Zupan A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.; Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network CRANIO, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 Jun 20; Vol. 61 (7), pp. 689-698. Date of Electronic Publication: 2024 Jun 20.