Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Brady Slater"'
Autor:
Dianne Nguyen, Salma Musaad, David Cuthbertson, Brady Slater, Laura L. Tosi, V. Reid Sutton, Alicia Turner, Brendan Lee, Chaya N. Murali, Mahshid S. Azamian, Sandesh C.S. Nagamani, Frank Rauch
Publikováno v:
Clin Genet
Patient-reported outcome measures (PROMs) are increasingly utilized as endpoints in clinical trials. The Short Form Health Survey-12 (SF-12v2) is a generic PROM for adults. We sought to evaluate the validity of SF-12v2 in adults with osteogenesis imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4391bd439edd96bad93956859356bb
https://doi.org/10.1111/cge.13939
https://doi.org/10.1111/cge.13939
Autor:
Danielle Gomez, Brady Slater, V. Reid Sutton, Mahim Jain, David Cuthbertson, Eric S. Orwoll, Frank Rauch, Deborah Krakow, Francis H. Glorieux, Tracy Hart, Chaya N. Murali, Jeffrey P. Krischer, Sandesh C.S. Nagamani, Jean-Marc Retrouvey, David R. Eyre, Dianne Nguyen, Michael B. Bober, Gerald F. Harris, Peter A. Smith, Alicia Turner, Laura L. Tosi, Paul Esposito, Cathleen L. Raggio, Eric T. Rush, Brendan Lee
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Patient-reported outcome measures (PROMs) are increasingly recognized as valuable endpoints in clinical trials. Pediatric Outcomes Data Collection Instrument (PODCI) is a PROM utilized in children with musculoskeletal disorders. We evaluated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8fda08d6c5959579a90d296e53e671b
https://doi.org/10.1038/s41436-019-0688-6
https://doi.org/10.1038/s41436-019-0688-6
Autor:
Tracey Weiler, Sherin Shaaban, Andrew Sobering, Shweta Dhar, Mary Maj, Cesar Larancuent, Amy Loret, Brady Slater
Publikováno v:
Genetics in Medicine. 24:S275-S276
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d83601c32cc12686f5a6960e3971c0a0
https://doi.org/10.1016/j.gim.2022.01.474
https://doi.org/10.1016/j.gim.2022.01.474
Autor:
null Chaya N. Murali, null Brady Slater, null Salma Musaad, null David Cuthbertson, null Dianne Nguyen, null Alicia Turner, null Mahshid Azamian, null Laura Tosi, null Frank Rauch, null V. Reid Sutton, null Brendan Lee, null Sandesh C. S. Nagamani, null Members of the BBD Consortium
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acfea5a13801f09b6d6eb5e927bd2eff
https://doi.org/10.1111/cge.13939/v2/response1
https://doi.org/10.1111/cge.13939/v2/response1
Autor:
Brady Slater, Joseph Angelo, Weimen Bi, Michael C. Braun, Nasim Bekheirnia, Mir Reza Bekheirnia
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(3)
Nephronophthisis-19 (NPHP19) due to truncating mutations in the DCDC2 gene has only been described previously in two patients. We describe a new case in a patient from the island country of Saint Vincent and the Grenadines, in the West Indies. This c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3f27d5a4406ccfd46798a7515275f2
https://pubmed.ncbi.nlm.nih.gov/31821705
https://pubmed.ncbi.nlm.nih.gov/31821705