Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Mauring L."'
Autor:
Mauring, L., Puusepp, S., Parik, M., Roomets, E., Teek, R., Reimand, T., Pajusalu, S., Kaljurand, K., Õunap, K.
Publikováno v:
In European Journal of Medical Genetics September 2023 66(9)
Autor:
Roomets E; Tallinn Children's Hospital, Tallinn, Estonia., Mauring L; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Eye Clinic, Tartu University Hospital, Tartu, Estonia.
Publikováno v:
European journal of ophthalmology [Eur J Ophthalmol] 2024 Sep; Vol. 34 (5), pp. NP1-NP7. Date of Electronic Publication: 2024 May 07.
Autor:
Romano D; Ophthalmology Clinic, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, Ophthalmology Clinic, University of Brescia, Brescia, Italy., Bremond-Gignac D; Ophthalmology Department, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France; INSERM, UMRS1138, Team 17, Université Sorbonne Paris Cité, Centre de Recherche des Cordeliers, Paris, France., Barbany M; Institut de Microcirurgia Ocular, Barcelona, Spain., Rahman A; School of Medicine, University of Liverpool, Liverpool L69 3GE, UK., Mauring L; Eye Clinic and Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Semeraro F; Ophthalmology Clinic, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, Ophthalmology Clinic, University of Brescia, Brescia, Italy., Cursiefen C; Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Lagali N; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden., Romano V; Ophthalmology Clinic, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, Ophthalmology Clinic, University of Brescia, Brescia, Italy. Electronic address: vito.romano@gmail.com.
Publikováno v:
Survey of ophthalmology [Surv Ophthalmol] 2023 Jul-Aug; Vol. 68 (4), pp. 794-808. Date of Electronic Publication: 2022 Nov 12.
Autor:
Black G. C., Sergouniotis P., Sodi A., Leroy B. P., Van Cauwenbergh C., Liskova P., Gronskov K., Klett A., Kohl S., Taurina G., Sukys M., Haer-Wigman L., Nowomiejska K., Marques J. P., Leroux D., Cremers F. P. M., De Baere E., Dollfus H., Ashworth J., Audo I., Bacci G., Balciuniene V. J., Bargiacchi S., Bertelsen M., Black G., Boon C., Bremond-Gignac D., Buzzonetti L., Calvas P., Thomsen A. C., Chirita-Emandi A., Chokoshvili D., Cremers F., Daly A., Downes S., Fasolo A., Fasser C., Fischer D., Fortunato P., Gelzinis A., Hall G., Hamann S., Heon E., Iarossi G., Iberg C., Jouanjan G., Kaariainen H., Kahn K., Keegan D., Laengsfeld M., Leon A., Leroux B., Lorenz B., Maggi R., Mauring L., Melico P., Meunier I., Mohand-Said S., Monterosso C., Morandi P., Parmeggiani F., Passerini I., Pelletier V., Peluso F., Perdomo Y., Rapizzi E., Roos L., Roosing S., Rozet J. -M., Simonelli F., Sowden J., Stingl K., Suppiej A., Testa F., Tracewska A., Traficante G., Valeina S., Wheeler-Schilling T., Yu-Wai-Man P., Zeitz C., Zemaitiene R.
Publikováno v:
Orphanet journal of rare diseases, 16(1):142. BioMed Central
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet Journal of Rare Diseases, 16
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 16, 1
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet Journal of Rare Diseases, 16
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 16, 1
Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e51c1f1b7c050a66d7033dd369699172
https://www.repository.cam.ac.uk/handle/1810/322429
https://www.repository.cam.ac.uk/handle/1810/322429
Autor:
Tiivoja E; Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia.; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia., Reinson K; Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia.; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia., Muru K; Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia.; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia., Rähn K; Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia.; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia., Muhu K; Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia., Mauring L; Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia.; Eye Clinic Tartu University Hospital Tartu Estonia., Kahre T; Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia.; Department of Laboratory Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia., Pajusalu S; Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia.; Department of Laboratory Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu Tartu Estonia.; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia.
Publikováno v:
JIMD reports [JIMD Rep] 2022 Aug 24; Vol. 63 (6), pp. 604-613. Date of Electronic Publication: 2022 Aug 24 (Print Publication: 2022).
Autor:
Mauring L; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France., Porter LF; Department of Eye and Vision Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, United Kingdom.; Alder Hey Children's Hospital Foundation Trust, Members of Liverpool Health Partners, Liverpool, United Kingdom., Pelletier V; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France., Riehm A; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France., Leuvrey AS; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Gouronc A; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Studer F; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France., Stoetzel C; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France., Dollfus H; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.; Department of Eye and Vision Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, United Kingdom.; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France., Muller J; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Publikováno v:
Frontiers in genetics [Front Genet] 2020 Aug 21; Vol. 11, pp. 938. Date of Electronic Publication: 2020 Aug 21 (Print Publication: 2020).
Akademický článek
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Publikováno v:
BMC Pediatrics; 8/2/2024, Vol. 24 Issue 1, p1-9, 9p
Autor:
Therrell, Bradford L., Padilla, Carmencita D., Borrajo, Gustavo J. C., Khneisser, Issam, Schielen, Peter C. J. I., Knight-Madden, Jennifer, Malherbe, Helen L., Kase, Marika
Publikováno v:
International Journal of Neonatal Screening (IJNS); Jun2024, Vol. 10 Issue 2, p38, 184p
Autor:
Bea-Mascato, Brais, Valverde, Diana
Publikováno v:
Journal of Medical Genetics; Jan2024, Vol. 61 Issue 1, p18-26, 9p