Pterygium extended removal followed by minor ipsilateral simple limbal epithelial transplantation (PERMISLET): An innovative technique for recurrent pterygium.

Autor: Sati A; Department of Ophthalmology, Cornea and Anterior Segment Services, Army Hospital (Research and Referral), New Delhi, India., Mishra SK; Department of Ophthalmology, Cornea and Anterior Segment Services, Army Hospital (Research and Referral), New Delhi, India., Shukla S; Department of Hospital Administration, AMC Centre and College, Lucknow, Uttar Pradesh, India., Unni D; Department of Ophthalmology, Command Hospital, Pune, Maharashtra, India., Kumar SV; Department of Ophthalmology, Army Hospital (Research and Referral), New Delhi, India., Dhar SK; Department of Ophthalmology, Command Hospital, Chandimandir, Panchkula, Haryana, India., Kaushik J; Department of Ophthalmology, Command Hospital, Lucknow, Uttar Pradesh, India., Sharma VK; Department of Ophthalmology, Armed Forces Medical College, Pune, Maharashtra, India., Pannu A; Department of Ophthalmology, Military Hospital, Panagarh, West Bengal, India.

Publikováno v: Indian journal of ophthalmology [Indian J Ophthalmol] 2024 Dec 27. Date of Electronic Publication: 2024 Dec 27.

FAIRification of health-related data using semantic web technologies in the Swiss Personalized Health Network.

Autor: Touré V; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, 4051, Basel, Switzerland., Krauss P; Trivadis - Part of Accenture, 4051, Basel, Switzerland., Gnodtke K; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, 4051, Basel, Switzerland., Buchhorn J; Trivadis - Part of Accenture, 4051, Basel, Switzerland., Unni D; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, 4051, Basel, Switzerland., Horki P; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, 4051, Basel, Switzerland., Raisaro JL; Health Informatics and Data Privacy Group, Biomedical Data Science Center, 1010 Lausanne University Hospital, Lausanne, Switzerland., Kalt K; Clinical Data Platform Research, Directorate of Research and Education, Zurich University Hospital, 8091, Zurich, Switzerland., Teixeira D; DSI - Data Group, Geneva University Hospital, 1205, Geneva, Switzerland., Crameri K; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, 4051, Basel, Switzerland., Österle S; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, 4051, Basel, Switzerland. sabine.oesterle@sib.swiss.

Publikováno v: Scientific data [Sci Data] 2023 Mar 10; Vol. 10 (1), pp. 127. Date of Electronic Publication: 2023 Mar 10.

BOSC 2022: the first hybrid and 23rd annual Bioinformatics Open Source Conference.

Autor: Harris NL; Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA., Hokamp K; Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., Ménager H; Institut Pasteur, Paris, France., Munoz-Torres M; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Unni D; Swiss Institute of Bioinformatics, Basel, Switzerland., Vasilevsky N; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Williams J; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.

Publikováno v: F1000Research [F1000Res] 2022 Sep 12; Vol. 11, pp. 1034. Date of Electronic Publication: 2022 Sep 12 (Print Publication: 2022).

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Autor: Boycott, K.M., Rath, A., Chong, J.X., Hartley, T., Alkuraya, F.S., Baynam, G., Brookes, A.J., Brudno, M., Carracedo, A., Dunnen, J.T. den, Dyke, S.O.M., Estivill, X., Goldblatt, J., Gonthier, C., Groft, S.C., Gut, I., Hamosh, A., Hieter, P., Hohn, S., Hurles, M.E., Kaufmann, P., Knoppers, B.M., Krischer, J.P., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A.A., Rehm, H.L., Robinson, P.N., Sham, P.C., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M.R., Zhang, F., Brunner, H., Bamshad, M.J., Lochmuller, H.

Publikováno v: American Journal of Human Genetics, 100(5), 695-705. Cell Press
American Journal of Human Genetics, 100(5), 695-705

Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, and fosters genetic counseling with respect to recurrence risks whi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e89a74ef16965775e240c336297352e5
https://hdl.handle.net/1887/94954

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