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  1. Atalaia, Antonio [Author]; Lochmüller, Hanns [Author]; Bonne, Gisèle [Author]

    A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

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    London: BMC Publishing Group, 2020

    Published in: Orphanet journal of rare diseases ; 15 (2020), 206

  2. Heard, Jean-Michel [Author]; Bellettato, Cinzia [Author]; Lingen, Corine van [Author]; Scarpa, Maurizio [Author]; Spiekerkötter, Ute [Author]

    Research activity and capability in the European reference network MetabERN

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    London: BioMed Central, 2019

    Published in: Orphanet journal of rare diseases ; 14,1 (2019), 119

  5. Gollnast, Lisa-Jane Susanna Alexandra [Author] ; Schramm, Christoph [Degree supervisor]

    Charakterisierung von Patienten mit undiagnostizierten Erkrankungen am Martin Zeitz Centrum für Seltene Erkrankungen

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    Hamburg: Staats- und Universitätsbibliothek Hamburg Carl von Ossietzky, 2021

  7. Schaaf, Jannik [Author]; Prokosch, Hans-Ulrich [Author]; Boeker, Martin [Author]; Schäfer, Johanna Özlem [Author]; Vasseur, Jessica [Author]; Storf, Holger [Author]; Sedlmayr, Martin [Author]

    Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study

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    London: Springer Nature, 2020

    Published in: BMC medical informatics and decision making ; 20 (2020), 230

  8. Signorelli, Mirko [Author]; Ayoglu, Burcu [Author]; Johansson, Camilla [Author]; Lochmüller, Hanns [Author]; Straub, Volker [Author]; Muntoni, Francesco [Author]; Niks, Erik [Author]; Tsonaka, Roula [Author]; Persson, Anja [Author]; Aartsma-Rus, Annemieke [Author]; Nilsson, Peter [Author]; Szigyarto, Cristina Al-Khalili [Author]; Spitali, Pietro [Author]

    Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

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    Hoboken, NJ: Wiley, 2020

    Published in: Journal of cachexia, sarcopenia and muscle ; 11, 2 (2020), 505-517

  9. Storf, Holger [Author]; Stausberg, Jürgen [Author]; Kindle, Gerhard [Author]; Quadder, Bernd [Author]; Schlangen, Miriam [Author]; Walter, Maggie C. [Author]; Ückert, Frank [Author]; Wagner, Thomas O. F. [Author]; Grimbacher, Bodo [Author]

    Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe „Register“ des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE)

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    Berlin; Heidelberg: Springer Nature, 2020

    Published in: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz ; 63, 6 (2020), 761-770

  10. Schaaf, Jannik [Author]; Sedlmayr, Martin [Author]; Prokosch, Hans-Ulrich [Author]; Ganslandt, Thomas [Author]; Schade-Brittinger, Carmen [Author]; Wagner, Michael von [Author]; Kadioglu, Dennis [Author]; Schubert, Katharina [Author]; Lee-Kirsch, Min Ae [Author]; Kraemer, Bernhard K. [Author]; Winner, Beate [Author]; Mueller, Tobias [Author]; Schäfer, Jürgen R. [Author]; Wagner, Thomas O. F. [Author]; Bruckner-Tuderman, Leena [Author]; Tüscher, Oliver [Author]; Boeker, Martin [Author]; Storf, Holger [Author]

    The status quo of rare diseases centres for the development of a clinical decision support system - a cross-sectional study

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    Amsterdam [u.a.]: IOS Press, 2020

    Published in: Studies in health technology and informatics ; 271 (2020), 176-183

  11. Klein, Christoph [Author] ; Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital

    Koordinierungszentrum für die Forschungsverbünde für seltene Erkrankungen - Schlussbericht 2015-2019

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    München: [Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital], [2019?]

  12. Schulz, Franziska [Author] ; Briese, Volker [Other]; Meyer, Peter [Other]; Rody, Achim [Other]

    Seltene neurologische Erkrankungen und Schwangerschaft : Erstellung eines Risikoprofils und einer therapeutischen Referenz unter Berücksichtigung maternaler Krankheitsfaktoren

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    Rostock: Universität Rostock, 2013

  13. Magerl, Markus [Author]; Gothe, Holger [Author]; Krupka, Simon [Author]; Lachmann, Anja [Author]; Ohlmeier, Christoph [Author]

    A Germany-wide survey study on the patient journey of patients with hereditary angioedema

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    Hannover: Hochschule Hannover, 2020

    Published in: Orphanet Journal of Rare Deseases ; Vol. 15 (2020), ArtNr. 221

  14. Pai, Menaka [Author]; Yeung, Cindy H. T. [Author]; Akl, Elie A. [Author]; Darzi, Andrea [Author]; Hillis, Christopher [Author]; Legault, Kimberly [Author]; Meerpohl, Jörg J. [Author]; Santesso, Nancy [Author]; Taruscio, Domenica [Author]; Verhovsek, Madeleine [Author]; Schünemann, Holger J. [Author]; Iorio, Alfonso [Author]

    Strategies for eliciting and synthesizing evidence for guidelines in rare diseases

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    London: BioMed Central, 2019

    Published in: BMC medical research methodology ; 19 (2019), 67

  18. Hamacher, Kay [Author]; Kussel, Tobias [Author] ; Technische Universität Darmstadt

    CORD_MI - Konsortien übergreifender Use Case - Collaboration on Rare Diseases; Teilprojekt der TU Darmstadt: Entwicklung von Secure Multi-Party Computation Lösungen (anteilig) : Abschlussbericht : Laufzeit: 01.03.2020-30.06.2022

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    Darmstadt: Technische Universität Darmstadt, [2022?]

  19. Deutsches Krebsforschungszentrum Abteilung Verbundinformationssysteme

    CORD_MI - Konsortien übergreifender Use Case Collaboration on Rare Diseases; Teilprojekt DKFZ: Lösungen zur Datenanalyse auf Basis von Secure Multi-Party Computation

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    [Heidelberg]: [Deutsches Krebsforschungszentrum (DKFZ) - Abt. Verbundinformationssysteme (E260)], [2022?]