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Clinical Epigenetics|July 15, 2018
Loss of maternal EED results in postnatal overgrowthLexie Prokopuk, Jessica M Stringer, Craig R White, et al.
Arthritis and Rheumatism|August 1, 1989
Double-blind trial of recombinant gamma-interferon versus placebo in the treatment of rheumatoid arthritisG W Cannon, S H Pincus, R D Emkey, et al.
The Journal of Rheumatology|November 1, 1993
Prospective 5-year followup of recombinant interferon-gamma in rheumatoid arthritisG W Cannon, R D Emkey, A Denes, et al.
American Journal of Human Genetics|April 18, 2024
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populationsAna S A Cohen, Courtney D Berrios, Tricia N Zion, et al.
Clinical Genetics|May 9, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case seriesMaxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Nature Communications|September 18, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 27, 2015
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical pictureShira Harel, Ana S A Cohen, Khalid Hussain, et al.
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