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Volumn 58, Issue 1, 2015, Pages 11-13

Building treasures for rare disorders

Author keywords

EHealth; Innovation; Internet; Rare disorders; Wiki

Indexed keywords

ARTICLE; BEHAVIOR; CONFIDENTIALITY; DATA BASE; HUMAN; INTERNET; MEDICAL INFORMATION; PATIENT CARE; PHYSICIAN; RARE DISEASE; RELIABILITY; SCIENTIST; SUPPORT GROUP; TELEHEALTH; COOPERATION; INFORMATION DISSEMINATION; MEDICAL RESEARCH; RARE DISEASES; SELF HELP;

EID: 84920277023     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.10.006     Document Type: Article
Times cited : (11)

References (11)
  • 1
    • 44849116195 scopus 로고    scopus 로고
    • Empowerment of patients: lessons from the rare diseases
    • Ayme S., Kole A., Groft S. Empowerment of patients: lessons from the rare diseases. Lancet 2008, 371:2048-2051.
    • (2008) Lancet , vol.371 , pp. 2048-2051
    • Ayme, S.1    Kole, A.2    Groft, S.3
  • 2
    • 79955476462 scopus 로고    scopus 로고
    • Care for patients with ultra-rare disorders
    • Hennekam R.C. Care for patients with ultra-rare disorders. Eur J Med Genet 2011, 54:220-224.
    • (2011) Eur J Med Genet , vol.54 , pp. 220-224
    • Hennekam, R.C.1
  • 3
    • 84920285557 scopus 로고    scopus 로고
    • (Accessed 15.04.14).
    • (Accessed 15.04.14). http://ec.europa.eu/health/rare_diseases/policy/index_en.htm.
  • 4
    • 84920278944 scopus 로고    scopus 로고
    • (Accessed 15.04.14).
    • (Accessed 15.04.14). http://statline.cbs.nl/StatWeb/publication/?DM=SLNL%26PA=71098ned%26D1=33-133%26D2=0-2%26D3=a%26VW=T.
  • 5
    • 84920267358 scopus 로고    scopus 로고
    • (Accessed 15.04.14).
    • (Accessed 15.04.14). http://thuisarts.nl/.
  • 6
    • 84920275064 scopus 로고    scopus 로고
    • (Assessed 15.04.14).
    • (Assessed 15.04.14). http://www.itu.int/en/ITU-D/Statistics/Documents/statistics/2013/ITU_Key_2005-2013_ICT_data.xls.
  • 9
    • 84920261045 scopus 로고    scopus 로고
    • (Accessed 15.04.14)
    • Rare Diseases Act (Accessed 15.04.14). http://www.gpo.gov/fdsys/pkg/PLAW-107publ280/html/PLAW-107publ280.htm.
  • 10
    • 84906053890 scopus 로고    scopus 로고
    • Deletions of the 3'part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
    • Schanze D., Neubauer D., Cormier-Daire V., Delrue M.A., Dieux-Coeslier A., Hasegawa T., et al. Deletions of the 3'part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. Hum Mutat 2014, 35:1092-1100.
    • (2014) Hum Mutat , vol.35 , pp. 1092-1100
    • Schanze, D.1    Neubauer, D.2    Cormier-Daire, V.3    Delrue, M.A.4    Dieux-Coeslier, A.5    Hasegawa, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.