BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

116 related articles for article (PubMed ID: 10881656)

  • 1. [Information and retrieval diagnostic system for inherited metabolic diseases].
    Krasnopol'skaia KD; Evdokimenkov VN; Tishkanina SV
    Vestn Ross Akad Med Nauk; 2000; (5):11-9. PubMed ID: 10881656
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Use of an information-search diagnostic system for recognizing acute hereditary metabolic diseases with early lethal outcomes].
    Krasnopol'skaia KD; Sakhibzadaeva KK; Goncharova IA; Chebotarev AN
    Genetika; 1994 Nov; 30(11):1563-5. PubMed ID: 7883163
    [TBL] [Abstract][Full Text] [Related]  

  • 3. U-IMD: the first Unified European registry for inherited metabolic diseases.
    Opladen T; Gleich F; Kozich V; Scarpa M; Martinelli D; Schaefer F; Jeltsch K; Juliá-Palacios N; García-Cazorla Á; Dionisi-Vici C; Kölker S
    Orphanet J Rare Dis; 2021 Feb; 16(1):95. PubMed ID: 33602304
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Genetic diagnosis of monogenic inherited endocrine and metabolic diseases: from bench to bedside].
    Ning G
    Zhonghua Nei Ke Za Zhi; 2006 Jun; 45(6):445-6. PubMed ID: 16831316
    [No Abstract]   [Full Text] [Related]  

  • 5. Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists.
    Masseroli M; Galati O; Manzotti M; Gibert K; Pinciroli F
    BMC Bioinformatics; 2005 Dec; 6 Suppl 4(Suppl 4):S18. PubMed ID: 16351744
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Relevance of the Human Genome Project to inherited metabolic disease.
    Burn J
    J Inherit Metab Dis; 1994; 17(4):421-9. PubMed ID: 7967492
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ontological phenotype standards for neurogenetics.
    Köhler S; Doelken SC; Rath A; Aymé S; Robinson PN
    Hum Mutat; 2012 Sep; 33(9):1333-9. PubMed ID: 22573485
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases.
    Cazzorla C; Del Rizzo M; Burgard P; Zanco C; Bordugo A; Burlina AB; Burlina AP
    Mol Genet Metab; 2012 May; 106(1):25-30. PubMed ID: 22398241
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Inherited Metabolic Disorders in Adults: A view from Saudi Arabia.
    Sulaiman RA; Al-Owain M
    Eur J Med Genet; 2019 Nov; 62(11):103562. PubMed ID: 31610876
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Quebec's genetic network one of the best.
    de Grandpré L
    Can Med Assoc J; 1974 Nov; 111(10):1153-5. PubMed ID: 4429944
    [No Abstract]   [Full Text] [Related]  

  • 11. GFINDer: genetic disease and phenotype location statistical analysis and mining of dynamically annotated gene lists.
    Masseroli M; Galati O; Pinciroli F
    Nucleic Acids Res; 2005 Jul; 33(Web Server issue):W717-23. PubMed ID: 15980570
    [TBL] [Abstract][Full Text] [Related]  

  • 12. PhenoTips: patient phenotyping software for clinical and research use.
    Girdea M; Dumitriu S; Fiume M; Bowdin S; Boycott KM; Chénier S; Chitayat D; Faghfoury H; Meyn MS; Ray PN; So J; Stavropoulos DJ; Brudno M
    Hum Mutat; 2013 Aug; 34(8):1057-65. PubMed ID: 23636887
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recent research on inherited metabolic diseases in children.
    Li YJ; Kan X
    Zhongguo Dang Dai Er Ke Za Zhi; 2022 Mar; 24(3):326-331. PubMed ID: 35351266
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.
    Moutapam-Ngamby-Adriaansen Y; Maillot F; Labarthe F; Lioger B
    Orphanet J Rare Dis; 2024 Feb; 19(1):65. PubMed ID: 38355710
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Automated genetic register and computer support for the physician's diagnostic decisions].
    Kobrinskiĭ BA; Kazantseva LZ; Fel'dman AE; Babichev EM; Belitskaia TT; Belova NA; Kudriavtsev AM; Nikolaeva EA; Novikov PV; Semiachkina AN
    Genetika; 1993 Oct; 29(10):1733-40. PubMed ID: 8307362
    [TBL] [Abstract][Full Text] [Related]  

  • 16. DECIDE: a user friendly web-based service for early diagnosis and research on Alzheimer's disease.
    Galeazzi F; Tanlongo F; Ardizzone V
    Stud Health Technol Inform; 2012; 175():108. PubMed ID: 22941998
    [No Abstract]   [Full Text] [Related]  

  • 17. Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
    Tingley K; Lamoureux M; Pugliese M; Geraghty MT; Kronick JB; Potter BK; Coyle D; Wilson K; Kowalski M; Austin V; Brunel-Guitton C; Buhas D; Chan AKJ; Dyack S; Feigenbaum A; Giezen A; Goobie S; Greenberg CR; Ghai SJ; Inbar-Feigenberg M; Karp N; Kozenko M; Langley E; Lines M; Little J; MacKenzie J; Maranda B; Mercimek-Andrews S; Mohan C; Mhanni A; Mitchell G; Mitchell JJ; Nagy L; Napier M; Pender A; Potter M; Prasad C; Ratko S; Salvarinova R; Schulze A; Siriwardena K; Sondheimer N; Sparkes R; Stockler-Ipsiroglu S; Trakadis Y; Turner L; Van Karnebeek C; Vallance H; Vandersteen A; Walia J; Wilson A; Wilson BJ; Yu AC; Yuskiv N; Chakraborty P;
    Orphanet J Rare Dis; 2020 Apr; 15(1):89. PubMed ID: 32276663
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.
    Gariani K; Nascimento M; Superti-Furga A; Tran C
    Orphanet J Rare Dis; 2020 Aug; 15(1):210. PubMed ID: 32811506
    [TBL] [Abstract][Full Text] [Related]  

  • 19. RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases.
    Töpel T; Scheible D; Trefz F; Hofestädt R
    Hum Mutat; 2010 Jan; 31(1):E1081-8. PubMed ID: 19953641
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Diagnosis and differential diagnosis in multiple sclerosis].
    Huber S; Kappos L
    Praxis (Bern 1994); 1997 Jan; 86(3):46-54. PubMed ID: 9045284
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.