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The Journal of Investigative Dermatology
|
January 18, 2013
Response to Horn et al
Mark P de Souza, Vanessa Rangel Miller
The Journal of Investigative Dermatology
|
June 15, 2012
Significance of patient registries for dermatological disorders
Mark P de Souza, Vanessa Rangel Miller
Molecular Genetics and Metabolism Reports
|
September 10, 2019
An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States
Therese Conner, Francesca Cook, Vivian Fernandez, et al.
Orphanet Journal of Rare Diseases
|
February 20, 2019
An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States
Therese Conner, Francesca Cook, Vivian Fernandez, et al.
Plos One
|
June 24, 2017
Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study
Mindell Seidlin, Robert Holzman, Pamela Knight, et al.
Human Mutation
|
July 17, 2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge
Brianne E Kirkpatrick, Erin Rooney Riggs, Danielle R Azzariti, et al.
Contemporary Clinical Trials
|
November 1, 2011
Informed consent process for patient participation in rare disease registries linked to biorepositories
Yaffa R Rubinstein, Stephen C Groft, Sara Hull Chandros, et al.
Plos Currents
|
January 31, 2015
Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits
Richard T Wang, Cheri A Silverstein Fadlon, J Wes Ulm, et al.
The Journal of Molecular Diagnostics : JMD
|
March 1, 2011
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel
Lisa Kalman, Jay Leonard, Norman Gerry, et al.
Human Mutation
|
October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharing
Juliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
The Journal of Investigative Dermatology
|
January 18, 2013
Response to Horn et al
Mark P de Souza, Vanessa Rangel Miller
The Journal of Investigative Dermatology
|
June 15, 2012
Significance of patient registries for dermatological disorders
Mark P de Souza, Vanessa Rangel Miller
Molecular Genetics and Metabolism Reports
|
September 10, 2019
An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States
Therese Conner, Francesca Cook, Vivian Fernandez, et al.
Orphanet Journal of Rare Diseases
|
February 20, 2019
An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States
Therese Conner, Francesca Cook, Vivian Fernandez, et al.
Plos One
|
June 24, 2017
Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study
Mindell Seidlin, Robert Holzman, Pamela Knight, et al.
Human Mutation
|
July 17, 2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge
Brianne E Kirkpatrick, Erin Rooney Riggs, Danielle R Azzariti, et al.
Contemporary Clinical Trials
|
November 1, 2011
Informed consent process for patient participation in rare disease registries linked to biorepositories
Yaffa R Rubinstein, Stephen C Groft, Sara Hull Chandros, et al.
Plos Currents
|
January 31, 2015
Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits
Richard T Wang, Cheri A Silverstein Fadlon, J Wes Ulm, et al.
The Journal of Molecular Diagnostics : JMD
|
March 1, 2011
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel
Lisa Kalman, Jay Leonard, Norman Gerry, et al.
Human Mutation
|
October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharing
Juliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
Page
of 2