-
1
-
-
37149015360
-
Networking for rare diseases: a necessity for Europe
-
COI: 1:STN:280:DC%2BD1c%2FmtVCiuw%3D%3D, PID: 18026888
-
Ayme S, Schmidtke J (2007) Networking for rare diseases: a necessity for Europe. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 50(12):1477–1483. doi:10.1007/s00103-007-0381-9
-
(2007)
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
, vol.50
, Issue.12
, pp. 1477-1483
-
-
Ayme, S.1
Schmidtke, J.2
-
2
-
-
84926462524
-
Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding
-
PID: 25887186
-
Ayme S, Bellet B, Rath A (2015) Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding. Orphanet J Rare Dis 10:35. doi:10.1186/s13023-015-0251-8
-
(2015)
Orphanet J Rare Dis
, vol.10
, pp. 35
-
-
Ayme, S.1
Bellet, B.2
Rath, A.3
-
3
-
-
79952044620
-
Ethical aspects on rare diseases
-
PID: 20824462
-
Barrera LA, Galindo GC (2010) Ethical aspects on rare diseases. Adv Exp Med Biol 686:493–511. doi:10.1007/978-90-481-9485-8_27
-
(2010)
Adv Exp Med Biol
, vol.686
, pp. 493-511
-
-
Barrera, L.A.1
Galindo, G.C.2
-
4
-
-
0030636780
-
Mutations in human TBX5 corrected cause limb and cardiac malformation in Holt-Oram syndrome
-
COI: 1:CAS:528:DyaK2sXjsV2msg%3D%3D, PID: 8988165
-
Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE (1997) Mutations in human TBX5 corrected cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15(1):30–35. doi:10.1038/ng0197-30
-
(1997)
Nat Genet
, vol.15
, Issue.1
, pp. 30-35
-
-
Basson, C.T.1
Bachinsky, D.R.2
Lin, R.C.3
Levi, T.4
Elkins, J.A.5
Soults, J.6
Grayzel, D.7
Kroumpouzou, E.8
Traill, T.A.9
Leblanc-Straceski, J.10
Renault, B.11
Kucherlapati, R.12
Seidman, J.G.13
Seidman, C.E.14
-
6
-
-
84856726653
-
Differential diagnosis generators: an evaluation of currently available computer programs
-
PID: 21789717
-
Bond WF, Schwartz LM, Weaver KR, Levick D, Giuliano M, Graber ML (2012) Differential diagnosis generators: an evaluation of currently available computer programs. J Gen Intern Med 27(2):213–219. doi:10.1007/s11606-011-1804-8
-
(2012)
J Gen Intern Med
, vol.27
, Issue.2
, pp. 213-219
-
-
Bond, W.F.1
Schwartz, L.M.2
Weaver, K.R.3
Levick, D.4
Giuliano, M.5
Graber, M.L.6
-
7
-
-
0038589165
-
The anatomy of a large-scale hypertextual web search engine
-
Brin S, Page L (1998) The anatomy of a large-scale hypertextual web search engine. Comp Netw ISDN Syst 30(1–7):107–117. doi:10.1016/S0169-7552(98)00110-X
-
(1998)
Comp Netw ISDN Syst
, vol.30
, Issue.1-7
, pp. 107-117
-
-
Brin, S.1
Page, L.2
-
8
-
-
84992747943
-
Googlede lysfolsomhed og diagnosticerede sig selvmed erytropoietisk protoporfyri
-
Christiansen AL, Brusgaard K, Hertz JM, Bygum A (2015) Googlede lysfolsomhed og diagnosticerede sig selvmed erytropoietisk protoporfyri. Ugeskr Laeger 177(30):2–3
-
(2015)
Ugeskr Laeger
, vol.177
, Issue.30
, pp. 2-3
-
-
Christiansen, A.L.1
Brusgaard, K.2
Hertz, J.M.3
Bygum, A.4
-
9
-
-
80053305924
-
Challenges and opportunities facing medical education
-
PID: 21686208
-
Densen P (2011) Challenges and opportunities facing medical education. Trans Am Clin Climatol Assoc 122:48–58
-
(2011)
Trans Am Clin Climatol Assoc
, vol.122
, pp. 48-58
-
-
Densen, P.1
-
10
-
-
85044636484
-
-
DIMDI: Deutsches Institut für Medizinische Dokumentation und Information (2017) DIMDI – Anwendungsbereich. http://www.dimdi.de/static/de/klassi/alpha-id/seltene-erkrankungen.htm#international. Zugegriffen: 11. Februar 2017
-
(2017)
DIMDI – Anwendungsbereich
-
-
-
11
-
-
84891650295
-
FindZebra: a search engine for rare diseases
-
PID: 23462700
-
Dragusin R, Petcu P, Lioma C, Larsen B, Jorgensen HL, Cox IJ, Hansen LK, Ingwersen P, Winther O (2013) FindZebra: a search engine for rare diseases. Int J Med Inform 82(6):528–538. doi:10.1016/j.ijmedinf.2013.01.005
-
(2013)
Int J Med Inform
, vol.82
, Issue.6
, pp. 528-538
-
-
Dragusin, R.1
Petcu, P.2
Lioma, C.3
Larsen, B.4
Jorgensen, H.L.5
Cox, I.J.6
Hansen, L.K.7
Ingwersen, P.8
Winther, O.9
-
12
-
-
84975161912
-
Specialized tools are needed when searching the web for rare disease diagnoses
-
PID: 25002998
-
Dragusin R, Petcu P, Lioma C, Larsen B, Jorgensen HL, Cox IJ, Hansen LK, Ingwersen P, Winther O (2013) Specialized tools are needed when searching the web for rare disease diagnoses. Rare Dis 1:e25001. doi:10.4161/rdis.25001
-
(2013)
Rare Dis
, vol.1
-
-
Dragusin, R.1
Petcu, P.2
Lioma, C.3
Larsen, B.4
Jorgensen, H.L.5
Cox, I.J.6
Hansen, L.K.7
Ingwersen, P.8
Winther, O.9
-
13
-
-
0020049603
-
The art of diagnosis: solving the clinicopathological exercise
-
COI: 1:STN:280:DyaL387ntlSluw%3D%3D, PID: 7070446
-
Eddy DM, Clanton CH (1982) The art of diagnosis: solving the clinicopathological exercise. N Engl J Med 306(21):1263–1268. doi:10.1056/NEJM198205273062104
-
(1982)
N Engl J Med
, vol.306
, Issue.21
, pp. 1263-1268
-
-
Eddy, D.M.1
Clanton, C.H.2
-
15
-
-
85044634177
-
-
Eurordis (2007) Rare diseases europe fact sheet Eurordiscare2. http://www.eurordis.org/sites/default/files/publications/Fact_Sheet_Eurordiscare2.pdf. Zugegriffen: 13. Februar 2017
-
(2007)
Rare diseases europe fact sheet Eurordiscare2
-
-
-
16
-
-
84904008427
-
Diagnostically relevant facial gestalt information from ordinary photos
-
PID: 24963138
-
Ferry Q, Steinberg J, Webber C, FitzPatrick DR, Ponting CP, Zisserman A, Nellaker C (2014) Diagnostically relevant facial gestalt information from ordinary photos. Elife 3:e02020. doi:10.7554/eLife.02020
-
(2014)
Elife
, vol.3
-
-
Ferry, Q.1
Steinberg, J.2
Webber, C.3
FitzPatrick, D.R.4
Ponting, C.P.5
Zisserman, A.6
Nellaker, C.7
-
17
-
-
84878703361
-
-
Fox S, Duggan M (2013) Health online 2013. http://www.pewinternet.org/2013/01/15/health-online-2013/. Zugegriffen: 10. Februar 2017
-
(2013)
Health online 2013
-
-
Fox, S.1
Duggan, M.2
-
19
-
-
85044679854
-
-
Google Inc (2017) Google Organic CTR Study 2014. https://www.advancedwebranking.com/google-ctr-study-2014.html. Zugegriffen: 10. Februar 2017
-
(2017)
Google Organic CTR Study 2014
-
-
-
20
-
-
85044671467
-
-
Zugegriffen: 10. Februar 2017
-
Google/Manhattan Research (2012) Screen to Script – The Doctor’s Digital Path to Treatment. https://www.thinkwithgoogle.com/research-studies/the-doctors-digital-path-to-treatment.html. Zugegriffen: 10. Februar 2017
-
(2012)
Screen to Script – the Doctor’s Digital Path to Treatment
-
-
-
21
-
-
37349020260
-
Performance of a web-based clinical diagnosis support system for internists
-
PID: 18095042
-
Graber ML, Mathew A (2008) Performance of a web-based clinical diagnosis support system for internists. J Gen Intern Med 23(Suppl 1):37–40. doi:10.1007/s11606-007-0271-8
-
(2008)
J Gen Intern Med
, vol.23
, pp. 37-40
-
-
Graber, M.L.1
Mathew, A.2
-
22
-
-
85007610158
-
Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial
-
PID: 26957320
-
Grigull L, Lechner W, Petri S, Kollewe K, Dengler R, Mehmecke S, Schumacher U, Lucke T, Schneider-Gold C, Kohler C, Guttsches A‑K, Kortum X, Klawonn F (2016) Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial. BMC Med Inform Decis Mak 16:31. doi:10.1186/s12911-016-0268-5
-
(2016)
BMC Med Inform Decis Mak
, vol.16
, pp. 31
-
-
Grigull, L.1
Lechner, W.2
Petri, S.3
Kollewe, K.4
Dengler, R.5
Mehmecke, S.6
Schumacher, U.7
Lucke, T.8
Schneider-Gold, C.9
Kohler, C.10
Guttsches, A.-K.11
Kortum, X.12
Klawonn, F.13
-
25
-
-
84891749517
-
The human phenotype ontology project: linking molecular biology and disease through phenotype data
-
PID: 24217912
-
Kohler S, Doelken SC, Mungall CJ et al (2014) The human phenotype ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res 42(Database issue):D966–74. doi:10.1093/nar/gkt1026
-
(2014)
Nucleic Acids Res
, vol.42
, Issue.Database issue
, pp. D966-D974
-
-
Kohler, S.1
Doelken, S.C.2
Mungall, C.J.3
-
26
-
-
70350474767
-
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
-
PID: 19800049
-
Kohler S, Schulz MH, Krawitz P, Bauer S, Dolken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN (2009) Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet 85(4):457–464. doi:10.1016/j.ajhg.2009.09.003
-
(2009)
Am J Hum Genet
, vol.85
, Issue.4
, pp. 457-464
-
-
Kohler, S.1
Schulz, M.H.2
Krawitz, P.3
Bauer, S.4
Dolken, S.5
Ott, C.E.6
Mundlos, C.7
Horn, D.8
Mundlos, S.9
Robinson, P.N.10
-
28
-
-
84875592277
-
Orphanet et son réseau. Où trouver une information validée sur les maladies rares
-
Maiella S, Rath A, Angin C, Mousson F, Kremp O (2013) Orphanet et son réseau. Où trouver une information validée sur les maladies rares. Rev Neurol (Paris) 169:S3–S8. doi:10.1016/S0035-3787(13)70052-3
-
(2013)
Rev. Neurol. (Paris)
, vol.169
, pp. S3-S8
-
-
Maiella, S.1
Rath, A.2
Angin, C.3
Mousson, F.4
Kremp, O.5
-
29
-
-
84873573198
-
The value of library and information services in patient care: results of a multisite study
-
PID: 23418404
-
Marshall JG, Sollenberger J, Easterby-Gannett S, Morgan LK, Klem ML, Cavanaugh SK, Oliver KB, Thompson CA, Romanosky N, Hunter S (2013) The value of library and information services in patient care: results of a multisite study. J Med Libr Assoc 101(1):38–46. doi:10.3163/1536-5050.101.1.007
-
(2013)
J Med Libr Assoc
, vol.101
, Issue.1
, pp. 38-46
-
-
Marshall, J.G.1
Sollenberger, J.2
Easterby-Gannett, S.3
Morgan, L.K.4
Klem, M.L.5
Cavanaugh, S.K.6
Oliver, K.B.7
Thompson, C.A.8
Romanosky, N.9
Hunter, S.10
-
30
-
-
70849136880
-
Birt-Hogg-Dubé syndrome. Diagnosis and management
-
COI: 1:CAS:528:DC%2BD1MXhsV2lurrK, PID: 19959076
-
Menko FH, van Steensel M, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER (2009) Birt-Hogg-Dubé syndrome. Diagnosis and management. Lancet Oncol 10(12):1199–1206. doi:10.1016/S1470-2045(09)70188-3
-
(2009)
Lancet Oncol
, vol.10
, Issue.12
, pp. 1199-1206
-
-
Menko, F.H.1
van Steensel, M.2
Giraud, S.3
Friis-Hansen, L.4
Richard, S.5
Ungari, S.6
Nordenskjöld, M.7
Hansen, T.V.8
Solly, J.9
Maher, E.R.10
-
31
-
-
85017176954
-
Crowdsourcing diagnosis for patients with undiagnosed illnesses: an evaluation of crowdMed
-
PID: 26769236
-
Meyer AND, Longhurst CA, Singh H (2016) Crowdsourcing diagnosis for patients with undiagnosed illnesses: an evaluation of crowdMed. J Med Internet Res 18(1):e12. doi:10.2196/jmir.4887
-
(2016)
J Med Internet Res
, vol.18
, Issue.1
-
-
Meyer, A.N.D.1
Longhurst, C.A.2
Singh, H.3
-
32
-
-
84975789320
-
Characteristics of patients contacting a center for undiagnosed and rare diseases
-
PID: 27328799
-
Mueller T, Jerrentrup A, Bauer MJ, Fritsch HW, Schaefer JR (2016) Characteristics of patients contacting a center for undiagnosed and rare diseases. Orphanet J Rare Dis 11(1):81. doi:10.1186/s13023-016-0467-2
-
(2016)
Orphanet J Rare Dis
, vol.11
, Issue.1
, pp. 81
-
-
Mueller, T.1
Jerrentrup, A.2
Bauer, M.J.3
Fritsch, H.W.4
Schaefer, J.R.5
-
33
-
-
84973277827
-
Software zur Unterstützung der Differenzialdiagnose in der Inneren Medizin – Auswirkungen auf die Qualität der Medizin
-
Müller T, Jerrentrup A, Fritsch H‑W, Schäfer J (2016) Software zur Unterstützung der Differenzialdiagnose in der Inneren Medizin – Auswirkungen auf die Qualität der Medizin. Klinikarzt 45(05):250–256. doi:10.1055/s-0042-106355
-
(2016)
Klinikarzt
, vol.45
, Issue.5
, pp. 250-256
-
-
Müller, T.1
Jerrentrup, A.2
Fritsch, H.-W.3
Schäfer, J.4
-
34
-
-
85044668305
-
A “Google Image” diagnosis of Madelung’s disease
-
PID: 25780592
-
Mumoli N, Vitale J, Sabatini S, Manni C, Masi L, Mazzi V, Cei M, Giorgetti S, Rossi M, Comassi M, Camaiti A (2015) A “Google Image” diagnosis of Madelung’s disease. JRSM Open 6(2):2054270414565957. doi:10.1177/2054270414565957
-
(2015)
JRSM Open
, vol.6
, Issue.2
-
-
Mumoli, N.1
Vitale, J.2
Sabatini, S.3
Manni, C.4
Masi, L.5
Mazzi, V.6
Cei, M.7
Giorgetti, S.8
Rossi, M.9
Comassi, M.10
Camaiti, A.11
-
36
-
-
78650188335
-
Isabel, a new diagnostic aid for the 21st century
-
Nash DB (2010) Isabel, a new diagnostic aid for the 21st century. P T 35(12):651
-
(2010)
P T
, vol.35
, Issue.12
, pp. 651
-
-
Nash, D.B.1
-
37
-
-
85044640018
-
-
Orphanet (2016) Birt Hogg Dubé syndrome. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=122. Zugegriffen: 10. Februar 2017
-
(2016)
Birt Hogg Dubé syndrome
-
-
-
39
-
-
84864358886
-
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users
-
PID: 22422702
-
Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Ayme S (2012) Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum Mutat 33(5):803–808. doi:10.1002/humu.22078
-
(2012)
Hum Mutat
, vol.33
, Issue.5
, pp. 803-808
-
-
Rath, A.1
Olry, A.2
Dhombres, F.3
Brandt, M.M.4
Urbero, B.5
Ayme, S.6
-
40
-
-
84962548067
-
The effectiveness of electronic differential diagnoses (DDX) generators: a systematic review and Meta-analysis
-
PID: 26954234
-
Riches N, Panagioti M, Alam R, Cheraghi-Sohi S, Campbell S, Esmail A, Bower P (2016) The effectiveness of electronic differential diagnoses (DDX) generators: a systematic review and Meta-analysis. PLOS ONE 11(3):e0148991. doi:10.1371/journal.pone.0148991
-
(2016)
PLOS ONE
, vol.11
, Issue.3
-
-
Riches, N.1
Panagioti, M.2
Alam, R.3
Cheraghi-Sohi, S.4
Campbell, S.5
Esmail, A.6
Bower, P.7
-
41
-
-
84954358609
-
The human phenotype ontology: a tool for annotating and analyzing human hereditary disease
-
COI: 1:CAS:528:DC%2BD1cXhtlyjsrnI, PID: 18950739
-
Robinson PN, Kohler S, Bauer S, Seelow D, Horn D, Mundlos S (2008) The human phenotype ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet 83(5):610–615. doi:10.1016/j.ajhg.2008.09.017
-
(2008)
Am J Hum Genet
, vol.83
, Issue.5
, pp. 610-615
-
-
Robinson, P.N.1
Kohler, S.2
Bauer, S.3
Seelow, D.4
Horn, D.5
Mundlos, S.6
-
42
-
-
85044657001
-
-
De Gruyter, Berlin
-
Seelos H‑J, Bürsner S, Dickhaus H, Graubner B, Guggenmoos-Holzmann I, Ingenerf J, Klar R, Pelikan E, Pietsch-Breitfeld B, Repges R, Schneider B, Selbmann HK, Spitzer K, Spreckelsen C, Tolxdorff T, Ulm K (1997) Medizinische Informatik, Biometrie und Epidemiologie. De Gruyter Lehrbuch. De Gruyter, Berlin
-
(1997)
Medizinische Informatik, Biometrie und Epidemiologie. De Gruyter Lehrbuch
-
-
Seelos, H.-J.1
Bürsner, S.2
Dickhaus, H.3
Graubner, B.4
Guggenmoos-Holzmann, I.5
Ingenerf, J.6
Klar, R.7
Pelikan, E.8
Pietsch-Breitfeld, B.9
Repges, R.10
Schneider, B.11
Selbmann, H.K.12
Spitzer, K.13
Spreckelsen, C.14
Tolxdorff, T.15
Ulm, K.16
-
43
-
-
84985913924
-
Rare disease diagnosis: a review of web search, social media and large-scale data-mining approaches
-
PID: 26442199
-
Svenstrup D, Jorgensen HL, Winther O (2015) Rare disease diagnosis: a review of web search, social media and large-scale data-mining approaches. Rare Dis 3(1):e1083145. doi:10.1080/21675511.2015.1083145
-
(2015)
Rare Dis
, vol.3
, Issue.1
-
-
Svenstrup, D.1
Jorgensen, H.L.2
Winther, O.3
-
44
-
-
33845453844
-
Googling for a diagnosis – use of Google as a diagnostic aid_ internet based study
-
PID: 17098763
-
Tang H, Ng JHK (2006) Googling for a diagnosis – use of Google as a diagnostic aid_ internet based study. BMJ 333(7579):1143–1145. doi:10.1136/bmj.39003.640567.AE
-
(2006)
BMJ
, vol.333
, Issue.7579
, pp. 1143-1145
-
-
Tang, H.1
Ng, J.H.K.2
-
45
-
-
85044630067
-
-
Unbekannt (2017) Zebra (medicine). https://en.wikipedia.org/w/index.php?oldid=754603425. Zugegriffen: 10. Februar 2017
-
(2017)
Zebra (medicine)
-
-
-
46
-
-
85044654280
-
-
Vasilevsky N, Engelstad M, Foster E, McMurry J, Mungall C, Robinson P, Köhler S, Haendel M (2017) Finally, a medical terminology that patients, doctors, and machines can all understand. http://monarch-initiative.blogspot.de/2016/03/finally-medical-terminology-that.html. Zugegriffen: 11. Februar 2017
-
(2017)
Finally, a medical terminology that patients, doctors, and machines can all understand
-
-
Vasilevsky, N.1
Engelstad, M.2
Foster, E.3
McMurry, J.4
Mungall, C.5
Robinson, P.6
Köhler, S.7
Haendel, M.8
-
48
-
-
84928709330
-
FindZebra – the search engine for difficult medical cases
-
Winther O, Svenstrup D, Henningsen PP, Kristiásson R, Jørgensen HL (2014) FindZebra – the search engine for difficult medical cases. Orphanet J Rare Dis 9(Suppl 1):O5. doi:10.1186/1750-1172-9-S1-O5
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. O5
-
-
Winther, O.1
Svenstrup, D.2
Henningsen, P.P.3
Kristiásson, R.4
Jørgensen, H.L.5
-
49
-
-
77249152783
-
Internet-based information-seeking behaviour amongst doctors and nurses: a short review of the literature
-
PID: 20402799
-
Younger P (2010) Internet-based information-seeking behaviour amongst doctors and nurses: a short review of the literature. Health Info Libr J 27(1):2–10. doi:10.1111/j.1471-1842.2010.00883.x
-
(2010)
Health Info Libr J
, vol.27
, Issue.1
, pp. 2-10
-
-
Younger, P.1
|