Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Lima Cunha, D."'
Autor:
Vattulainen M; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland., Smits JGA; Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Arts JA; Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands., Lima Cunha D; Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands., Ilmarinen T; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland., Skottman H; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland. Electronic address: heli.skottman@tuni.fi., Zhou H; Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: j.zhou@science.ru.nl.
Publikováno v:
Stem cell reports [Stem Cell Reports] 2024 Jul 09; Vol. 19 (7), pp. 1010-1023. Date of Electronic Publication: 2024 Jun 27.
Autor:
Arts JA; Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, 6525 GA Nijmegen, The Netherlands., Laberthonnière C; Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, 6525 GA Nijmegen, The Netherlands., Lima Cunha D; Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, 6525 GA Nijmegen, The Netherlands., Zhou H; Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, 6525 GA Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Publikováno v:
Cells [Cells] 2023 Jul 07; Vol. 12 (13). Date of Electronic Publication: 2023 Jul 07.
Autor:
Lima Cunha D; UCL Institute of Ophthalmology, London, UK.; Radboud Institute of Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands., Sarkar H; UCL Institute of Ophthalmology, London, UK.; The Francis Crick Institute, London, UK., Eintracht J; UCL Institute of Ophthalmology, London, UK., Harding P; UCL Institute of Ophthalmology, London, UK., Zhou JH; Radboud Institute of Molecular Life Sciences, Radboud University, Nijmegen, the Netherlands., Moosajee M; UCL Institute of Ophthalmology, London, UK.; The Francis Crick Institute, London, UK.; Moorfields Eye Hospital, London, UK.
Publikováno v:
Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2023 Jun 26; Vol. 33, pp. 240-253. Date of Electronic Publication: 2023 Jun 26 (Print Publication: 2023).
Autor:
Lima Cunha, D., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K., Hennies, H.C.
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=mdc______med::615805fb4d0705fa0daf65523d4fa8fd
http://edoc.mdc-berlin.de/20559/7/20559suppl.zip
http://edoc.mdc-berlin.de/20559/7/20559suppl.zip
Autor:
Lima Cunha D; UCL Institute of Ophthalmology, London, UK., Owen N; UCL Institute of Ophthalmology, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK., Tailor V; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; UCL Experimental Psychology, London, UK., Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Theodorou M; Moorfields Eye Hospital NHS Foundation Trust, London, UK., Moosajee M; UCL Institute of Ophthalmology, London, UK. m.moosajee@ucl.ac.uk.; Moorfields Eye Hospital NHS Foundation Trust, London, UK. m.moosajee@ucl.ac.uk.; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. m.moosajee@ucl.ac.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Feb; Vol. 29 (2), pp. 349-355. Date of Electronic Publication: 2020 Oct 06.
Autor:
Eintracht J; Institute of Ophthalmology, University College London, London, EC1V 9EL, UK., Harding P; Institute of Ophthalmology, University College London, London, EC1V 9EL, UK., Lima Cunha D; Institute of Ophthalmology, University College London, London, EC1V 9EL, UK., Moosajee M; Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.; The Francis Crick Institute, London, NW1 1AT, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK.; Great Ormond Street Hospital for Children, London, WC1N 3JH, UK.
Publikováno v:
F1000Research [F1000Res] 2022 Mar 17; Vol. 11, pp. 324. Date of Electronic Publication: 2022 Mar 17 (Print Publication: 2022).
Autor:
Wang, Li1 (AUTHOR), Xu, Qingdan1 (AUTHOR), Wang, Wentao2 (AUTHOR), Sun, Xinghuai1,3,4 (AUTHOR), Chen, Yuhong1,3 (AUTHOR) yuhongchen@fudan.edu.cn
Publikováno v:
Orphanet Journal of Rare Diseases. 10/24/2024, Vol. 19 Issue 1, p1-12. 12p.
Autor:
Harding P; UCL Institute of Ophthalmology, London, UK., Lima Cunha D; UCL Institute of Ophthalmology, London, UK., Méjécase C; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Eintracht J; UCL Institute of Ophthalmology, London, UK., Toualbi L; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Sarkar H; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Moosajee M; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address: m.moosajee@ucl.ac.uk.
Publikováno v:
Stem cell research [Stem Cell Res] 2021 Mar; Vol. 51, pp. 102184. Date of Electronic Publication: 2021 Jan 18.
Autor:
Lima Cunha D; Department of Biological and Geographical Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK.; Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria.; Cologne Center for Genomics, University Hospital Cologne, Weyertal 115b, 50931 Cologne, Germany., Oram A; Department of Biological and Geographical Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK., Gruber R; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria., Plank R; Department of Biological and Geographical Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK.; Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria., Lingenhel A; Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria., Gupta MK; Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University Hospital Cologne, Robert-Koch-Str. 39, 50931 Cologne, Germany., Altmüller J; Cologne Center for Genomics, University Hospital Cologne, Weyertal 115b, 50931 Cologne, Germany., Nürnberg P; Cologne Center for Genomics, University Hospital Cologne, Weyertal 115b, 50931 Cologne, Germany., Schmuth M; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria., Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria., Šarić T; Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University Hospital Cologne, Robert-Koch-Str. 39, 50931 Cologne, Germany., Eckl KM; Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria.; Department of Biology, Edge Hill University, St Helens Road, Ormskirk L39 4QP, UK., Hennies HC; Department of Biological and Geographical Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK.; Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria.; Cologne Center for Genomics, University Hospital Cologne, Weyertal 115b, 50931 Cologne, Germany.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2021 Feb 11; Vol. 22 (4). Date of Electronic Publication: 2021 Feb 11.
Autor:
Méjécase C; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Harding P; UCL Institute of Ophthalmology, London, UK., Sarkar H; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Eintracht J; UCL Institute of Ophthalmology, London, UK., Lima Cunha D; UCL Institute of Ophthalmology, London, UK., Toualbi L; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Moosajee M; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address: m.moosajee@ucl.ac.uk.
Publikováno v:
Stem cell research [Stem Cell Res] 2020 Dec; Vol. 49, pp. 102113. Date of Electronic Publication: 2020 Dec 08.