-
3
-
-
85058792267
-
-
U.S. Department of Health and Human Services
-
U.S. Department of Health and Human Services. Orphan Drug Act. 2018; https://www.fda.gov/RegulatoryInformation/LawsEnforcedbyFDA/SignificantAmendmentstotheFDCAct/OrphanDrugAct/ default.htm
-
(2018)
Orphan Drug Act
-
-
-
4
-
-
85046565818
-
-
Canada’s Rare Disease Strategy. The Canadian Organization for Rare Disorders. 2017; http://www.raredisorders.ca//content/uploads/CORD_Canada_RD_Strategy_22May15.pdf
-
(2017)
The Canadian Organization for Rare Disorders
-
-
-
5
-
-
0015798495
-
The defect in the Hunter syndrome: Deficiency of sulfoidur-onate sulfatase
-
PMID: 4269173
-
Bach G, Eisenberg FJ, Cantz M, Neufeld EF. The defect in the Hunter syndrome: deficiency of sulfoidur-onate sulfatase. Proc Natl Acad Sci USA. 1973; 70: 2134–2138. PMID: 4269173
-
(1973)
Proc Natl Acad Sci USA
, vol.70
, pp. 2134-2138
-
-
Bach, G.1
Eisenberg, F.J.2
Cantz, M.3
Neufeld, E.F.4
-
6
-
-
85058825244
-
-
The Canadian Society for Mucopolysac-charide and Related Diseases Inc
-
A Guide to Understanding Mucopolysaccharidosis (MPS) II. The Canadian Society for Mucopolysac-charide and Related Diseases Inc. 2017; https://www.mpssociety.ca/wp-content/uploads/2017/04/MPSIIBookletEnglish.pdf
-
(2017)
A Guide to Understanding Mucopolysaccharidosis (MPS) II
-
-
-
7
-
-
33947590635
-
A clinical study of 77 patients with mucopolysaccharidosis type II
-
Schwartz I, Ribeiro MG, Mota JG, Toralles MBP, Correia P, Horovitz D. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Pædactrica. 2007; 96: 63–70.
-
(2007)
Acta Pædactrica
, vol.96
, pp. 63-70
-
-
Schwartz, I.1
Ribeiro, M.G.2
Mota, J.G.3
Toralles, M.B.P.4
Correia, P.5
Horovitz, D.6
-
8
-
-
38849176942
-
Recognition and diagnosis of mucopolysaccharidosis II (Hunter Syndrome)
-
Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V. Recognition and diagnosis of mucopolysaccharidosis II (Hunter Syndrome). Pediatrics. 2008; 121: 377–386.
-
(2008)
Pediatrics
, vol.121
, pp. 377-386
-
-
Martin, R.1
Beck, M.2
Eng, C.3
Giugliani, R.4
Harmatz, P.5
Muñoz, V.6
-
9
-
-
84938215892
-
Health-related quality of life in patients with MPS II
-
Needham M, Packman W, Quinn N, Rappoport M, Aoki C, Bostrom A, Cordova M, Macias S, Morgan C, Packman S. Health-Related Quality of Life in Patients with MPS II. J Genet Counsel. 2015; 24: 635–644.
-
(2015)
J Genet Counsel
, vol.24
, pp. 635-644
-
-
Needham, M.1
Packman, W.2
Quinn, N.3
Rappoport, M.4
Aoki, C.5
Bostrom, A.6
Cordova, M.7
Macias, S.8
Morgan, C.9
Packman, S.10
-
10
-
-
85058792261
-
Mucopolysaccharidosis type II
-
Mucopolysaccharidosis type II. Genetics Home Reference. 2016; https://rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii
-
(2016)
Genetics Home Reference
-
-
-
15
-
-
84871519258
-
Sample size planning for classification models
-
PMID: 23265730
-
Beleites C, Neugebauer U, Bocklitzc T, Krafft C, Poppa J. Sample size planning for classification models. Analytica Chimica Acta. 2013; 760: 25–33. https://doi.org/10.1016/j.aca.2012.11.007 PMID: 23265730
-
(2013)
Analytica Chimica Acta
, vol.760
, pp. 25-33
-
-
Beleites, C.1
Neugebauer, U.2
Bocklitzc, T.3
Krafft, C.4
Poppa, J.5
-
16
-
-
77949630731
-
Balance impairment as a risk factor for falls in community-dwelling older adults who are high functioning: A prospective study
-
PMID: 20056721
-
Muir SW, Berg K, Chesworth B, Klar N, Speechley M. Balance impairment as a risk factor for falls in community-dwelling older adults who are high functioning: a prospective study. Phys Ther. 2010; 90:338–47. https://doi.org/10.2522/ptj.20090163 PMID: 20056721
-
(2010)
Phys Ther
, vol.90
, pp. 338-347
-
-
Muir, S.W.1
Berg, K.2
Chesworth, B.3
Klar, N.4
Speechley, M.5
-
17
-
-
56249113343
-
Building predictive models in R using the caret package
-
Kuhn M. Building predictive models in R using the caret package. Journal of Statistical Software. 2008; 28(5): 1–26. https://doi.org/10.18637/jss.v028.i05
-
(2008)
Journal of Statistical Software
, vol.28
, Issue.5
, pp. 1-26
-
-
Kuhn, M.1
-
21
-
-
0017360990
-
The measurement of observer agreement for categorical data
-
Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics. 1997; 33: 159–174.
-
(1997)
Biometrics
, vol.33
, pp. 159-174
-
-
Landis, J.R.1
Koch, G.G.2
-
22
-
-
34249832377
-
A Bayesian method for the induction of probabilistic networks from data
-
Kluwer, Boston
-
Cooper GF, Herskovits E. A Bayesian Method for the Induction of Probabilistic Networks from Data. Machine Learning. Kluwer, Boston. 1992; 9: 309–347.
-
(1992)
Machine Learning
, vol.9
, pp. 309-347
-
-
Cooper, G.F.1
Herskovits, E.2
-
25
-
-
85075614736
-
On the classification performance of tan and general Bayesian networks
-
Bramer M., Petridis M., Coenen F. eds Springer, London
-
Madden MG. On the Classification Performance of TAN and General Bayesian Networks. In: Bramer M., Petridis M., Coenen F. (eds) Research and Development in Intelligent Systems XXV. SGAI 2008. Springer, London; 2009.
-
(2009)
Research and Development in Intelligent Systems XXV. SGAI 2008
-
-
Madden, M.G.1
-
26
-
-
84879852866
-
Decision support in heart disease prediction system using naive Bayes
-
Subbalakshmi G, Ramesh K, Rao MC. Decision support in heart disease prediction system using naive Bayes. Indian J Comput Sci Eng. 2011; 2:170–6.
-
(2011)
Indian J Comput Sci Eng
, vol.2
, pp. 170-176
-
-
Subbalakshmi, G.1
Ramesh, K.2
Rao, M.C.3
-
30
-
-
31844452069
-
Naive bayes models for probability estimation
-
August 7–11, Bonn, Germany, ACM
-
Lowd D, Domingos P. Naive Bayes Models for Probability Estimation. Proceedings of the 22nd International Conferenceon Machine Learning, August 7–11, Bonn, Germany, ACM; 2005. 529–536.
-
(2005)
Proceedings of The 22nd International Conferenceon Machine Learning
, pp. 529-536
-
-
Lowd, D.1
Domingos, P.2
-
32
-
-
34249761849
-
Learning Bayesian networks: The combination of knowledge and statistical data
-
Heckerman D, Geiger D, Chickering DM. Learning Bayesian networks: the combination of knowledge and statistical data. Machine Learning; 1995. 20:197–243.
-
(1995)
Machine Learning
, vol.20
, pp. 197-243
-
-
Heckerman, D.1
Geiger, D.2
Chickering, D.M.3
-
33
-
-
0025401005
-
The computational complexity of probabilistic inference using Bayesian belief networks
-
Cooper GF. The computational complexity of probabilistic inference using Bayesian belief networks. Artificial Intelligence; 1990. 42(2–3):393–405.
-
(1990)
Artificial Intelligence
, vol.42
, Issue.2-3
, pp. 393-405
-
-
Cooper, G.F.1
-
37
-
-
84937523757
-
The human phenotype ontology: Semantic unification of common and rare disease
-
PMID: 26119816
-
Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T, Schriml LM, Kibbe WA, Scho-field PN, Beck T, Vasant D. The human phenotype ontology: semantic unification of common and rare disease. The American Journal of Human Genetics. 2015; 97:111–24. https://doi.org/10.1016/j.ajhg.2015.05.020 PMID: 26119816
-
(2015)
The American Journal of Human Genetics
, vol.97
, pp. 111-124
-
-
Groza, T.1
Köhler, S.2
Moldenhauer, D.3
Vasilevsky, N.4
Baynam, G.5
Zemojtel, T.6
Schriml, L.M.7
Kibbe, W.A.8
Scho-Field, P.N.9
Beck, T.10
Vasant, D.11
-
38
-
-
85055256180
-
Leveraging collaborative filtering to accelerate rare disease diagnosis
-
Shen F, Liu S, Wang Y, Wang Y, Wang L, Afzal N, Liu H. Leveraging collaborative filtering to accelerate rare disease diagnosis. AMIA Annual Symposium Proceedings. 2017; 1554–1563.
-
(2017)
AMIA Annual Symposium Proceedings
, pp. 1554-1563
-
-
Shen, F.1
Liu, S.2
Wang, Y.3
Wang, Y.4
Wang, L.5
Afzal, N.6
Liu, H.7
|