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Val C Sheffield

Showing results (141-150 of 193) with videos related to

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Human Genetics|December 25, 2010
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12Emad Muhammad, Neta Leventhal, Galit Parvari, et al.
Human Gene Therapy|May 21, 2019
Development of a Molecularly Stable Gene Therapy Vector for the Treatment of <i>RPGR</i>-Associated X-Linked Retinitis PigmentosaJoseph C Giacalone, Jeaneen L Andorf, Qihong Zhang, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 27, 2008
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaAlok S Shah, Sara L Farmen, Thomas O Moninger, et al.
Human Molecular Genetics|March 18, 2005
Mkks-null mice have a phenotype resembling Bardet-Biedl syndromeMelissa A Fath, Robert F Mullins, Charles Searby, et al.
Nature Genetics|October 14, 2003
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouseJamee M Bomar, Paul J Benke, Eric L Slattery, et al.
American Journal of Medical Genetics|April 27, 2002
Performance of cochlear implant recipients with GJB2-related deafnessGlenn E Green, Daryl A Scott, Joshua M McDonald, et al.
Peerj|May 16, 2022
An open source and convenient method for the wide-spread testing of COVID-19 using deep throat sputum samplesSunny C Huang, Thomas K Pak, Cameron P Graber, et al.
Ophthalmic Genetics|March 26, 2008
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathySuma P Shankar, John H Fingert, Valerio Carelli, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 7, 2002
Variations in the myocilin gene in patients with open-angle glaucomaWallace L M Alward, Young H Kwon, Cheryl L Khanna, et al.
The Journal of Clinical Investigation|February 16, 2008
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressureWan-Heng Wang, Loretta G McNatt, Iok-Hou Pang, et al.
Pageof 20

Showing results (141-150 of 193) with videos related to

Sort By:
Pageof 20
Human Genetics|December 25, 2010
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12Emad Muhammad, Neta Leventhal, Galit Parvari, et al.
Human Gene Therapy|May 21, 2019
Development of a Molecularly Stable Gene Therapy Vector for the Treatment of <i>RPGR</i>-Associated X-Linked Retinitis PigmentosaJoseph C Giacalone, Jeaneen L Andorf, Qihong Zhang, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 27, 2008
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaAlok S Shah, Sara L Farmen, Thomas O Moninger, et al.
Human Molecular Genetics|March 18, 2005
Mkks-null mice have a phenotype resembling Bardet-Biedl syndromeMelissa A Fath, Robert F Mullins, Charles Searby, et al.
Nature Genetics|October 14, 2003
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouseJamee M Bomar, Paul J Benke, Eric L Slattery, et al.
American Journal of Medical Genetics|April 27, 2002
Performance of cochlear implant recipients with GJB2-related deafnessGlenn E Green, Daryl A Scott, Joshua M McDonald, et al.
Peerj|May 16, 2022
An open source and convenient method for the wide-spread testing of COVID-19 using deep throat sputum samplesSunny C Huang, Thomas K Pak, Cameron P Graber, et al.
Ophthalmic Genetics|March 26, 2008
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathySuma P Shankar, John H Fingert, Valerio Carelli, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 7, 2002
Variations in the myocilin gene in patients with open-angle glaucomaWallace L M Alward, Young H Kwon, Cheryl L Khanna, et al.
The Journal of Clinical Investigation|February 16, 2008
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressureWan-Heng Wang, Loretta G McNatt, Iok-Hou Pang, et al.
Pageof 20