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Investigative Ophthalmology & Visual Science|August 29, 2006
Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?Sara J Bowne, Qin Liu, Lori S Sullivan, et al.
The American Journal on Addictions|May 16, 2019
Pharmacogenetic role of dopamine transporter (SLC6A3) variation on response to disulfiram treatment for cocaine addictionJune P Kampangkaew, Catherine J Spellicy, Ellen M Nielsen, et al.
Psychiatric Genetics|May 6, 2021
The OPRD1 rs678849 variant influences outcome of disulfiram treatment for cocaine dependency in methadone-maintained patientsPatrick S Thomas, Ellen M Nielsen, Catherine J Spellicy, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defectsCatherine J Spellicy, Joy Norris, Renee Bend, et al.
Journal of Human Genetics|March 13, 2019
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?Catherine J Spellicy, Yunhui Peng, Leah Olewiler, et al.
American Journal of Ophthalmology|October 11, 2005
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 genePetra Kozma, Dianna K Hughbanks-Wheaton, Kirsten G Locke, et al.
American Journal of Medical Genetics. Part A|August 4, 2022
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndromeJessica A Cooley Coleman, Timothy Fee, Renee Bend, et al.
Investigative Ophthalmology & Visual Science|December 31, 2005
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosisSara J Bowne, Lori S Sullivan, Sarah E Mortimer, et al.
Pharmacogenetics and Genomics|April 9, 2015
Genetic variation of the dopamine transporter (DAT1) influences the acute subjective responses to cocaine in volunteers with cocaine use disordersAlex J Brewer, David A Nielsen, Catherine J Spellicy, et al.
Investigative Ophthalmology & Visual Science|June 27, 2006
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesLori S Sullivan, Sara J Bowne, David G Birch, et al.
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