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Journal of Medical Genetics|October 1, 1996
X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindredJ J MacKenzie, J Fitzpatrick, P Babyn, et al.
JIMD Reports|August 1, 2013
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 MutationMatthew A Lines, C Anthony Rupar, Jack W Rip, et al.
Pediatric Emergency Care|January 20, 2016
Clinician Attitudes Toward Adoption of Pediatric Emergency Telemedicine in Rural HospitalsKristin N Ray, Kathryn A Felmet, Melinda F Hamilton, et al.
Human Molecular Genetics|June 1, 1993
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophyA V Winnard, C J Klein, D D Coovert, et al.
Sexually Transmitted Diseases|May 25, 2005
Chlamydia screening of at-risk young women in managed health care: characteristics of top-performing primary care officesMidge N Ray, Terry Wall, Linda Casebeer, et al.
Science (New York, N.Y.)|January 1, 1988
Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' endR G Worton, J Sutherland, J E Sylvester, et al.
Neuromuscular Disorders : NMD|March 7, 2017
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4AHernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, et al.
Frontiers in Psychology|June 26, 2023
Psychological and functional outcomes following a randomized controlled trial of surf and hike therapy for U.S. service membersKristen H Walter, Nicholas P Otis, Erin L Miggantz, et al.
American Journal of Medical Genetics|July 13, 2002
Genetic analysis of patients with the Saethre-Chotzen phenotypeKathy Chun, Ahmad S Teebi, Jack H Jung, et al.
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