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PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Rasi, Chiara; Nilsson, Daniel; Magnusson, Måns; Lesko, Nicole; Lagerstedt-Robinson, Kristina; Wedell, Anna; Lindstrand, Anna; Wirta, Valtteri; Stranneheim, Henrik.
Afiliación
  • Rasi C; Science for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institute, Stockholm, Sweden.
  • Nilsson D; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Magnusson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Lesko N; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Lagerstedt-Robinson K; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden.
  • Wedell A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Lindstrand A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Wirta V; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Stranneheim H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Hum Mutat ; 43(6): 708-716, 2022 06.
Article en En | MEDLINE | ID: mdl-35192731
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Raras / Enfermedades no Diagnosticadas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Suecia
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Raras / Enfermedades no Diagnosticadas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Suecia