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Erica E Davis

Showing results (91-100 of 125) with videos related to

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Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Nature Communications|July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathyYu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.
Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Nature Genetics|December 7, 2010
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsAnne-Christine Merveille, Erica E Davis, Anita Becker-Heck, et al.
Kidney International|November 22, 2013
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Edgar A Otto, Toby W Hurd, et al.
Annals of Neurology|July 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual DisabilityArkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, et al.
The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Pageof 13

Showing results (91-100 of 125) with videos related to

Sort By:
Pageof 13
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Nature Communications|July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathyYu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.
Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
American Journal of Human Genetics|October 28, 2008
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Nature Genetics|December 7, 2010
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsAnne-Christine Merveille, Erica E Davis, Anita Becker-Heck, et al.
Kidney International|November 22, 2013
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Edgar A Otto, Toby W Hurd, et al.
Annals of Neurology|July 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual DisabilityArkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, et al.
The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Pageof 13