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Erica E Davis

Showing results (81-90 of 125) with videos related to

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Science Advances|October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathiesKamal Khan, Erika Tavares, Katherine Bishara, et al.
American Journal of Human Genetics|July 16, 2013
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryRim Hjeij, Anna Lindstrand, Richard Francis, et al.
Human Mutation|November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeDaniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 16, 2023
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathyVandana Shashi, Kelly Schoch, Rebecca Ganetzky, et al.
American Journal of Respiratory Cell and Molecular Biology|February 25, 2016
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm ComplexesGerard W Dougherty, Niki T Loges, Judith A Klinkenbusch, et al.
American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Pageof 13

Showing results (81-90 of 125) with videos related to

Sort By:
Pageof 13
Science Advances|October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathiesKamal Khan, Erika Tavares, Katherine Bishara, et al.
American Journal of Human Genetics|July 16, 2013
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryRim Hjeij, Anna Lindstrand, Richard Francis, et al.
Human Mutation|November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeDaniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 16, 2023
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathyVandana Shashi, Kelly Schoch, Rebecca Ganetzky, et al.
American Journal of Respiratory Cell and Molecular Biology|February 25, 2016
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm ComplexesGerard W Dougherty, Niki T Loges, Judith A Klinkenbusch, et al.
American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Pageof 13