Showing results (1-10 of 44) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism|April 23, 2014
Clinical laboratory studies in Barth SyndromeHilary J Vernon, Yana Sandlers, Rebecca McClellan, et al.
The Journal of Biological Chemistry|October 11, 2003
Remodeling of cardiolipin by phospholipid transacylationYang Xu, Richard I Kelley, Thomas J J Blanck, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|April 5, 2005
Characterization of lymphoblast mitochondria from patients with Barth syndromeYang Xu, John J Sutachan, Heide Plesken, et al.
Neurobiology of Disease|February 28, 2016
Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrainAshley M Driver, Lisa E Kratz, Richard I Kelley, et al.
American Journal of Medical Genetics. Part A|December 28, 2002
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a maleDavid J Aughton, Richard I Kelley, Aida Metzenberg, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL geneMarybeth Hummel, David Cunningham, Charles J Mullett, et al.
BMC Research Notes|August 21, 2024
Gulf war illness: a tale of two genomesBeatrice A Golomb, Richard I Kelley, Jun Hee Han, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanismDavid D Weaver, Benjamin D Solomon, Kelly Akin-Samson, et al.
American Journal of Medical Genetics|October 12, 2002
Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduriaRichard I Kelley, Donna Robinson, Erik G Puffenberger, et al.
Arthritis and Rheumatism|September 18, 2003
Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndromeKazuki Takada, Ivona Aksentijevich, Vijayabhanu Mahadevan, et al.
Pageof 5