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Orphanet Journal of Rare Diseases
|
December 11, 2014
The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome
Sara Sheikhzadeh, Julie De Backer, Neda Rahimian Gorgan, et al.
American Journal of Hypertension
|
July 4, 2009
Augmentation index relates to progression of aortic disease in adults with Marfan syndrome
Kai Mortensen, Muhammet A Aydin, Meike Rybczynski, et al.
Genome Biology
|
October 16, 2014
Deletions of chromosomal regulatory boundaries are associated with congenital disease
Jonas Ibn-Salem, Sebastian Köhler, Michael I Love, et al.
Contemporary Clinical Trials
|
November 13, 2013
Design and implementation of a randomized controlled social and mobile weight loss trial for young adults (project SMART)
K Patrick, S J Marshall, E P Davila, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2024
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, et al.
Human Mutation
|
April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
Alexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
The Journal of Prevention of Alzheimer'S Disease
|
February 27, 2025
Effects of the Davos Alzheimer's Collaborative early detection of cognitive impairment program on clinician attitudes, engagement, and confidence
Tabasa Ozawa, Katherine J Selzler, Daniel E Ball, et al.
Journal of Immunotherapy (Hagerstown, Md. : 1997)
|
July 29, 2010
Cord blood natural killer cells exhibit impaired lytic immunological synapse formation that is reversed with IL-2 exvivo expansion
Dongxia Xing, Alan G Ramsay, John G Gribben, et al.
Human Mutation
|
August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
Orion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
Plos One
|
May 17, 2023
Phenopacket-tools: Building and validating GA4GH Phenopackets
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, et al.
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of 132
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Showing results (1181-1190 of 1,318) with videos related to
Sort By:
Page
of 132
Orphanet Journal of Rare Diseases
|
December 11, 2014
The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome
Sara Sheikhzadeh, Julie De Backer, Neda Rahimian Gorgan, et al.
American Journal of Hypertension
|
July 4, 2009
Augmentation index relates to progression of aortic disease in adults with Marfan syndrome
Kai Mortensen, Muhammet A Aydin, Meike Rybczynski, et al.
Genome Biology
|
October 16, 2014
Deletions of chromosomal regulatory boundaries are associated with congenital disease
Jonas Ibn-Salem, Sebastian Köhler, Michael I Love, et al.
Contemporary Clinical Trials
|
November 13, 2013
Design and implementation of a randomized controlled social and mobile weight loss trial for young adults (project SMART)
K Patrick, S J Marshall, E P Davila, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2024
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, et al.
Human Mutation
|
April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
Alexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
The Journal of Prevention of Alzheimer'S Disease
|
February 27, 2025
Effects of the Davos Alzheimer's Collaborative early detection of cognitive impairment program on clinician attitudes, engagement, and confidence
Tabasa Ozawa, Katherine J Selzler, Daniel E Ball, et al.
Journal of Immunotherapy (Hagerstown, Md. : 1997)
|
July 29, 2010
Cord blood natural killer cells exhibit impaired lytic immunological synapse formation that is reversed with IL-2 exvivo expansion
Dongxia Xing, Alan G Ramsay, John G Gribben, et al.
Human Mutation
|
August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
Orion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
Plos One
|
May 17, 2023
Phenopacket-tools: Building and validating GA4GH Phenopackets
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, et al.
Page
of 132