المؤلفون: Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Genetic and genomic testing, Rare eye diseases, ERN-EYE, Position statement, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/31fb6bd059a046fc9ea6edd2145032da

المؤلفون: Black, Graeme C, Sergouniotis, Panagiotis, Sodi, Andrea, Leroy, Bart P, Van Cauwenbergh, Caroline, Liskova, Petra, Grønskov, Karen, Klett, Artur, Kohl, Susanne, Taurina, Gita, Sukys, Marius, Haer-Wigman, Lonneke, Nowomiejska, Katarzyna, Marques, João Pedro, Leroux, Dorothée, Cremers, Frans PM, De Baere, Elfride, Dollfus, Hélène, ERN-EYE study group

مصطلحات موضوعية: ERN-EYE, Genetic and genomic testing, Position statement, Rare eye diseases, Child, Europe, Eye Diseases, Genetic Testing, Genomics, Humans, Rare Diseases

وصف الملف: Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/322429

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/322429
https://doi.org/10.17863/CAM.69887

المؤلفون: Lorenz B. (10269773), Tavares J. (10269776), vandenBorn L.I. (10269779), Marques J.P. (10269782), Pilotto E. (14316627), Stingl K. (9665093), CharbelIssa P. (5633885), Leroux D. (14316630), Dollfus H. (4148332), Scholl H.P. (14316633), EVICR.net study group (14316636), ERN-EYE study group (14316639)

مصطلحات موضوعية: Medicine

Relation: https://figshare.com/articles/dataset/Supplementary_Material_for_Current_management_of_Inherited_Retinal_Degenerations_IRD_patients_in_Europe_Results_of_a_2_years_follow-up_multinational_survey_by_the_European_Vision_Institute_Clinical_Research_Network_-_EVICR_net/21803253

الاتاحة: https://doi.org/10.6084/m9.figshare.21803253.v1

المؤلفون: Black, Graeme C., Sergouniotis, Panagiotis, Sodi, Andrea, Leroy, Bart P., Van Cauwenbergh, Caroline, Liskova, Petra, Grønskov, Karen, Klett, Artur, Kohl, Susanne, Taurina, Gita, Sukys, Marius, Haer-Wigman, Lonneke, Nowomiejska, Katarzyna, Marques, João Pedro, Leroux, Dorothée, Cremers, Frans P. M., De Baere, Elfride, Dollfus, Hélène, ERN-EYE study group, Arno, Gavin

المصدر: Orphanet Journal of Rare Diseases; 3/20/2021, Vol. 16 Issue 1, p1-8, 8p

مصطلحات موضوعية: EYE diseases, RARE diseases, MEDICAL personnel, BLINDNESS in children, GENETIC testing, PHARMACOGENOMICS, RESEARCH, RESEARCH methodology, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, SYMPTOMS, GENOMICS, RESEARCH funding

مصطلحات جغرافية: EUROPE