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Val C Sheffield

Showing results (51-60 of 193) with videos related to

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American Journal of Medical Genetics. Part A|January 18, 2005
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 geneAlessandro Iannaccone, Kirk Mykytyn, Antonio M Persico, et al.
American Journal of Medical Genetics|July 13, 2002
Evaluation of FOXP2 as an autism susceptibility geneThomas H Wassink, Joseph Piven, Veronica J Vieland, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 16, 2010
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneityJulie C Sapp, Darryl Nishimura, Jennifer J Johnston, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 19, 2010
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assemblySeongjin Seo, Lisa M Baye, Nathan P Schulz, et al.
Plos One|April 5, 2013
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null miceXitiz Chamling, Seongjin Seo, Kevin Bugge, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 26, 2008
Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A geneLea K Davis, Heather C Hazlett, Amy L Librant, et al.
Ophthalmology|September 5, 2012
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testingEdwin M Stone, Anthony J Aldave, Arlene V Drack, et al.
Ophthalmology|October 5, 2013
Author reply: To PMID 22944025Edwin M Stone, Anthony J Aldave, Arlene V Drack, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 29, 2015
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndromePoppy Datta, Chantal Allamargot, Joseph S Hudson, et al.
JCI Insight|February 4, 2021
Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilinRamesh B Kasetti, Prabhavathi Maddineni, Charles Kiehlbauch, et al.
Pageof 20

Showing results (51-60 of 193) with videos related to

Sort By:
Pageof 20
American Journal of Medical Genetics. Part A|January 18, 2005
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 geneAlessandro Iannaccone, Kirk Mykytyn, Antonio M Persico, et al.
American Journal of Medical Genetics|July 13, 2002
Evaluation of FOXP2 as an autism susceptibility geneThomas H Wassink, Joseph Piven, Veronica J Vieland, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 16, 2010
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneityJulie C Sapp, Darryl Nishimura, Jennifer J Johnston, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 19, 2010
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assemblySeongjin Seo, Lisa M Baye, Nathan P Schulz, et al.
Plos One|April 5, 2013
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null miceXitiz Chamling, Seongjin Seo, Kevin Bugge, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 26, 2008
Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A geneLea K Davis, Heather C Hazlett, Amy L Librant, et al.
Ophthalmology|September 5, 2012
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testingEdwin M Stone, Anthony J Aldave, Arlene V Drack, et al.
Ophthalmology|October 5, 2013
Author reply: To PMID 22944025Edwin M Stone, Anthony J Aldave, Arlene V Drack, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 29, 2015
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndromePoppy Datta, Chantal Allamargot, Joseph S Hudson, et al.
JCI Insight|February 4, 2021
Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilinRamesh B Kasetti, Prabhavathi Maddineni, Charles Kiehlbauch, et al.
Pageof 20