These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 38914824)

  • 21. The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes.
    Ali SR; Bryce J; Tan LE; Hiort O; Pereira AM; van den Akker ELT; Appelman-Dijkstra NM; Bertherat J; Cools M; Dekkers OM; Kodra Y; Persani L; Smyth A; Smythe C; Taruscio D; Ahmed SF
    Int J Environ Res Public Health; 2020 Nov; 17(23):. PubMed ID: 33255540
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study.
    Linertová R; Serrano-Aguilar P; Posada-de-la-Paz M; Hens-Pérez M; Kanavos P; Taruscio D; Schieppati A; Stefanov R; Péntek M; Delgado C; von der Schulenburg JM; Persson U; Chevreul K; Fattore G; Worbes-Cerezo M; Sefton M; López-Bastida J;
    Health Policy; 2012 Nov; 108(1):19-26. PubMed ID: 22947412
    [TBL] [Abstract][Full Text] [Related]  

  • 23. National registries of rare diseases in Europe: an overview of the current situation and experiences.
    Taruscio D; Vittozzi L; Choquet R; Heimdal K; Iskrov G; Kodra Y; Landais P; Posada M; Stefanov R; Steinmueller C; Swinnen E; Van Oyen H
    Public Health Genomics; 2015; 18(1):20-5. PubMed ID: 25228300
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Position statement on access to care in rare liver diseases: advancements of the European reference network (ERN) RARE-LIVER.
    Bernts LHP; Jones DEJ; Kaatee MM; Lohse AW; Schramm C; Sturm E; Drenth JPH
    Orphanet J Rare Dis; 2019 Jul; 14(1):169. PubMed ID: 31287000
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The current landscape of European registries for rare endocrine conditions.
    Ali SR; Bryce J; Cools M; Korbonits M; Beun JG; Taruscio D; Danne T; Dattani M; Dekkers OM; Linglart A; Netchine I; Nordenstrom A; Patocs A; Persani L; Reisch N; Smyth A; Sumnik Z; Visser WE; Hiort O; Pereira AM; Ahmed SF
    Eur J Endocrinol; 2019 Jan; 180(1):89-98. PubMed ID: 30407922
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.
    Choquet R; Maaroufi M; de Carrara A; Messiaen C; Luigi E; Landais P
    J Am Med Inform Assoc; 2015 Jan; 22(1):76-85. PubMed ID: 25038198
    [TBL] [Abstract][Full Text] [Related]  

  • 27. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.
    Mazzucato M; Pozza LVD; Facchin P; Angin C; Agius F; Cavero-Carbonell C; Corrochano V; Hanusova K; Kirch K; Lambert D; Lucano C; Maiella S; Panzaru M; Rusu C; Weber S; Zurriaga O; Zvolsky M; Rath A
    Orphanet J Rare Dis; 2023 Sep; 18(1):267. PubMed ID: 37667299
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Region-specific Diffeomorphic Metric Mapping.
    Shen Z; Vialard FX; Niethammer M
    Adv Neural Inf Process Syst; 2019 Dec; 32():1098-1108. PubMed ID: 36081637
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The pooling of manpower and resources through the establishment of European reference networks and rare disease patient registries is a necessary area of collaboration for rare renal disorders.
    Parker S
    Nephrol Dial Transplant; 2014 Sep; 29 Suppl 4():iv9-14. PubMed ID: 25165190
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
    Laurie S; Piscia D; Matalonga L; Corvó A; Fernández-Callejo M; Garcia-Linares C; Hernandez-Ferrer C; Luengo C; Martínez I; Papakonstantinou A; Picó-Amador D; Protasio J; Thompson R; Tonda R; Bayés M; Bullich G; Camps-Puchadas J; Paramonov I; Trotta JR; Alonso A; Attimonelli M; Béroud C; Bros-Facer V; Buske OJ; Cañada-Pallarés A; Fernández JM; Hansson MG; Horvath R; Jacobsen JOB; Kaliyaperumal R; Lair-Préterre S; Licata L; Lopes P; López-Martín E; Mascalzoni D; Monaco L; Pérez-Jurado LA; Posada de la Paz M; Rambla J; Rath A; Riess O; Robinson PN; Salgado D; Smedley D; Spalding D; 't Hoen PAC; Töpf A; Zaharieva I; Graessner H; Gut IG; Lochmüller H; Beltran S
    Hum Mutat; 2022 Jun; 43(6):717-733. PubMed ID: 35178824
    [TBL] [Abstract][Full Text] [Related]  

  • 31. PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
    Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H
    Hum Mutat; 2022 Jun; 43(6):708-716. PubMed ID: 35192731
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
    Schüle R; Timmann D; Erasmus CE; Reichbauer J; Wayand M; ; van de Warrenburg B; Schöls L; Wilke C; Bevot A; Zuchner S; Beltran S; Laurie S; Matalonga L; Graessner H; Synofzik M;
    Eur J Hum Genet; 2021 Sep; 29(9):1332-1336. PubMed ID: 33972714
    [No Abstract]   [Full Text] [Related]  

  • 33. PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
    Buske OJ; Girdea M; Dumitriu S; Gallinger B; Hartley T; Trang H; Misyura A; Friedman T; Beaulieu C; Bone WP; Links AE; Washington NL; Haendel MA; Robinson PN; Boerkoel CF; Adams D; Gahl WA; Boycott KM; Brudno M
    Hum Mutat; 2015 Oct; 36(10):931-40. PubMed ID: 26251998
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Socio-economic burden of rare diseases: A systematic review of cost of illness evidence.
    Angelis A; Tordrup D; Kanavos P
    Health Policy; 2015 Jul; 119(7):964-79. PubMed ID: 25661982
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
    Gainotti S; Mascalzoni D; Bros-Facer V; Petrini C; Floridia G; Roos M; Salvatore M; Taruscio D
    Int J Environ Res Public Health; 2018 Sep; 15(10):. PubMed ID: 30248891
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Implementation of EXABO - An Expert Advisory Board for the European Reference Network for Rare Respiratory Diseases.
    Walther D; Steinmann O; Wagner TOF; Storf H
    Stud Health Technol Inform; 2020 Jun; 270():986-990. PubMed ID: 32570529
    [TBL] [Abstract][Full Text] [Related]  

  • 37. National plans and strategies on rare diseases in Europe.
    Taruscio D; Vittozzi L; Stefanov R
    Adv Exp Med Biol; 2010; 686():475-91. PubMed ID: 20824461
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.
    Chatzimichali EA; Brent S; Hutton B; Perrett D; Wright CF; Bevan AP; Hurles ME; Firth HV; Swaminathan GJ
    Hum Mutat; 2015 Oct; 36(10):941-9. PubMed ID: 26220709
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [French model for Europe and Europe as a model for France in the field of rare diseases].
    Le Cam Y
    Med Sci (Paris); 2018 May; 34 Hors série n°1():52-55. PubMed ID: 29911566
    [No Abstract]   [Full Text] [Related]  

  • 40. Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.
    Kaliyaperumal R; Wilkinson MD; Moreno PA; Benis N; Cornet R; Dos Santos Vieira B; Dumontier M; Bernabé CH; Jacobsen A; Le Cornec CMA; Godoy MP; Queralt-Rosinach N; Schultze Kool LJ; Swertz MA; van Damme P; van der Velde KJ; Lalout N; Zhang S; Roos M
    J Biomed Semantics; 2022 Mar; 13(1):9. PubMed ID: 35292119
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.