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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

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

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

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Corneal Langerhans Cell And Endothelium Changes In Patients With Herpetic Keratitis During Acute Phase Of The Disease And After 6 Months

Autor: Zaliuniene D, Zemaitiene R, Danileviciene, Nedzelskiene I, Gintauskiene Vm

Purpose. To describe corneal morphological changes by evaluating Langerhans cell (LC) and endothelium cell density using in vivo laser scanning confocal microscopy (LSCM) in herpes simplex virus (HSV) keratitis during acute phase of the disease and a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b76789c63653aade20e780f6d5fef418
https://doi.org/10.21203/rs.2.10317/v1