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Val C Sheffield

Showing results (91-100 of 193) with videos related to

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Archives of Ophthalmology (Chicago, Ill. : 1960)|March 14, 2007
No association between variations in the WDR36 gene and primary open-angle glaucomaJohn H Fingert, Wallace L M Alward, Young H Kwon, et al.
Journal of Medical Genetics|May 25, 2017
Mutation in TDRD9 causes non-obstructive azoospermia in infertile menMaram Arafat, Iris Har-Vardi, Avi Harlev, et al.
Human Molecular Genetics|August 13, 2013
Congenital myopathy is caused by mutation of HACD1Emad Muhammad, Orit Reish, Yusuke Ohno, et al.
Plos Genetics|July 29, 2017
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling proteinCharles Anthony Scott, Autumn N Marsden, Michael R Rebagliati, et al.
Human Mutation|April 10, 2016
A Homozygous Nme7 Mutation Is Associated with Situs Inversus TotalisOrit Reish, Liam Aspit, Arielle Zouella, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 3, 2004
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assemblyKirk Mykytyn, Robert F Mullins, Michael Andrews, et al.
Plos Genetics|October 20, 2017
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segmentYing Hsu, Janelle E Garrison, Gunhee Kim, et al.
Ophthalmic Genetics|June 7, 2006
The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from IowaJohn H Fingert, Young H Kwon, Paula A Moore, et al.
Diabetes|May 26, 2019
The BBSome in POMC and AgRP Neurons Is Necessary for Body Weight Regulation and Sorting of Metabolic ReceptorsDeng-Fu Guo, Zhihong Lin, Yuanming Wu, et al.
Human Molecular Genetics|February 24, 2007
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressureAllan R Shepard, Nasreen Jacobson, J Cameron Millar, et al.
Pageof 20

Showing results (91-100 of 193) with videos related to

Sort By:
Pageof 20
Archives of Ophthalmology (Chicago, Ill. : 1960)|March 14, 2007
No association between variations in the WDR36 gene and primary open-angle glaucomaJohn H Fingert, Wallace L M Alward, Young H Kwon, et al.
Journal of Medical Genetics|May 25, 2017
Mutation in TDRD9 causes non-obstructive azoospermia in infertile menMaram Arafat, Iris Har-Vardi, Avi Harlev, et al.
Human Molecular Genetics|August 13, 2013
Congenital myopathy is caused by mutation of HACD1Emad Muhammad, Orit Reish, Yusuke Ohno, et al.
Plos Genetics|July 29, 2017
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling proteinCharles Anthony Scott, Autumn N Marsden, Michael R Rebagliati, et al.
Human Mutation|April 10, 2016
A Homozygous Nme7 Mutation Is Associated with Situs Inversus TotalisOrit Reish, Liam Aspit, Arielle Zouella, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 3, 2004
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assemblyKirk Mykytyn, Robert F Mullins, Michael Andrews, et al.
Plos Genetics|October 20, 2017
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segmentYing Hsu, Janelle E Garrison, Gunhee Kim, et al.
Ophthalmic Genetics|June 7, 2006
The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from IowaJohn H Fingert, Young H Kwon, Paula A Moore, et al.
Diabetes|May 26, 2019
The BBSome in POMC and AgRP Neurons Is Necessary for Body Weight Regulation and Sorting of Metabolic ReceptorsDeng-Fu Guo, Zhihong Lin, Yuanming Wu, et al.
Human Molecular Genetics|February 24, 2007
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressureAllan R Shepard, Nasreen Jacobson, J Cameron Millar, et al.
Pageof 20