Search research articles
Contact Us
Filters
Showing results (381-390 of 406) with videos related to
Page
of 41
Sort By:
Nature Communications
|
September 11, 2024
Multiscale mapping of transcriptomic signatures for cardiotoxic drugs
Jens Hansen, Yuguang Xiong, Mustafa M Siddiq, et al.
American Journal of Human Genetics
|
August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditions
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Genetics in Medicine Open
|
January 19, 2026
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease
Dominique P Germain, Fatma Al-Jasmi, Gheona Altarescu, et al.
American Journal of Human Genetics
|
August 30, 2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
Orphanet Journal of Rare Diseases
|
June 15, 2019
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Mehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
Orphanet Journal of Rare Diseases
|
May 31, 2019
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance
Mehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
JAMA Neurology
|
April 10, 2023
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial
Priya S Kishnani, Jordi Diaz-Manera, Antonio Toscano, et al.
American Journal of Respiratory and Critical Care Medicine
|
September 7, 2023
Lower Airway Dysbiosis Augments Lung Inflammatory Injury in Mild-to-Moderate Chronic Obstructive Pulmonary Disease
Imran Sulaiman, Benjamin G Wu, Matthew Chung, et al.
The Lancet. Neurology
|
November 20, 2021
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
Jordi Diaz-Manera, Priya S Kishnani, Hani Kushlaf, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints
Latha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, et al.
Page
of 41
Search research articles
Search
Showing results (381-390 of 406) with videos related to
Sort By:
Page
of 41
Nature Communications
|
September 11, 2024
Multiscale mapping of transcriptomic signatures for cardiotoxic drugs
Jens Hansen, Yuguang Xiong, Mustafa M Siddiq, et al.
American Journal of Human Genetics
|
August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditions
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Genetics in Medicine Open
|
January 19, 2026
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease
Dominique P Germain, Fatma Al-Jasmi, Gheona Altarescu, et al.
American Journal of Human Genetics
|
August 30, 2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
Orphanet Journal of Rare Diseases
|
June 15, 2019
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Mehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
Orphanet Journal of Rare Diseases
|
May 31, 2019
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance
Mehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
JAMA Neurology
|
April 10, 2023
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial
Priya S Kishnani, Jordi Diaz-Manera, Antonio Toscano, et al.
American Journal of Respiratory and Critical Care Medicine
|
September 7, 2023
Lower Airway Dysbiosis Augments Lung Inflammatory Injury in Mild-to-Moderate Chronic Obstructive Pulmonary Disease
Imran Sulaiman, Benjamin G Wu, Matthew Chung, et al.
The Lancet. Neurology
|
November 20, 2021
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
Jordi Diaz-Manera, Priya S Kishnani, Hani Kushlaf, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints
Latha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, et al.
Page
of 41