المؤلفون: Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschuentzsch, Jana, Zuccolo, Michela, Muellenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Huebner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats G., 1952, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farne, Marianna, Fortunato, Fernanda, Ferlini, Alessandra

المصدر: PLOS ONE. 18(11)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-521890
https://doi.org/10.1371/journal.pone.0293503
https://uu.diva-portal.org/smash/get/diva2:1834587/FULLTEXT01.pdf

المؤلفون: Liévin, Valentin, Hansen, Jonas Meinertz, Lund, Allan, Elstein, Deborah, Matthiesen, Mads Emil, Elomaa, Kaisa, Zarakowska, Kaja, Himmelhan, Iris, Botha, Jaco, Borgeskov, Hanne, Winther, Ole

المصدر: Liévin , V , Hansen , J M , Lund , A , Elstein , D , Matthiesen , M E , Elomaa , K , Zarakowska , K , Himmelhan , I , Botha , J , Borgeskov , H & Winther , O 2023 , ' FindZebra online search delving into rare disease case reports using natural language processing ' , Plos Digital Health , vol. 2 , no. 6 , e0000269 .

مصطلحات الفهرس: article

URL: https://orbit.dtu.dk/en/publications/d00c9e58-219b-4326-bc41-b748d71a1de3
https://doi.org/10.1371/journal.pdig.0000269
https://backend.orbit.dtu.dk/ws/files/330261190/journal.pdig.0000269.pdf

المؤلفون: Ferlini, Alessandra, Gross, Edith Sky, Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela

المصدر: Orphanet Journal of Rare Diseases; 10/4/2023, Vol. 18 Issue 1, p1-4, 4p

مصطلحات موضوعية: GENETIC testing, NEWBORN screening, RARE diseases, MEDICAL sciences, GENETIC disorders, REVERSE genetics, NUCLEOTIDE sequencing

الشركة/الكيان: EUROPEAN Union

المؤلفون: Revel-Vilk, Shoshana, Chodick, Gabriel, Shalev, Varda, Lotan, Roni, Zarakowska, Kaja, Gadir, Noga

المصدر: International Journal of Translational Medicine; Sep2022, Vol. 2 Issue 3, p506-514, 9p

مصطلحات موضوعية: GAUCHER'S disease diagnosis, MACHINE learning, MEDICAL decision making, MEDICAL care, DATA analysis

المؤلفون: Liévin V; DTU Compute, Technical University of Denmark, Lyngby, Denmark.; FindZebra, Denmark., Hansen JM; FindZebra, Denmark., Lund A; Centre Inherited Metabolic Diseases, Department of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen Ø, Denmark., Elstein D; Independent consultant; Jerusalem, Israel., Matthiesen ME; FindZebra, Denmark., Elomaa K; Takeda Oy, Helsinki, Finland., Zarakowska K; Takeda Pharmaceuticals International AG, Zürich, Switzerland., Himmelhan I; Takeda Pharmaceuticals International AG, Zürich, Switzerland., Botha J; Takeda Pharmaceuticals International AG, Zürich, Switzerland., Borgeskov H; Department of Clinical Pharmacology, Aalborg University Hospital, Aalborg, Denmark., Winther O; DTU Compute, Technical University of Denmark, Lyngby, Denmark.; FindZebra, Denmark.; Department of Biology, University of Copenhagen, Copenhagen N, Denmark.; Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen Ø, Denmark.

المصدر: PLOS digital health [PLOS Digit Health] 2023 Jun 29; Vol. 2 (6), pp. e0000269. Date of Electronic Publication: 2023 Jun 29 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: PLOS Country of Publication: United States NLM ID: 9918335064206676 Publication Model: eCollection Cited Medium: Internet ISSN: 2767-3170 (Electronic) Linking ISSN: 27673170 NLM ISO Abbreviation: PLOS Digit Health Subsets: PubMed not MEDLINE