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Erica E Davis

Showing results (41-50 of 125) with videos related to

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Life (Basel, Switzerland)|January 21, 2022
HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial RegulationVanessa Cristina de Oliveira, Kelly Cristine Santos Roballo, Clésio Gomes Mariano Junior, et al.
Endocrinology|September 10, 2024
Identification of Environmental Compounds That May Trigger Early Female Puberty by Activating Human GnRHR and KISS1RShu Yang, Li Zhang, Kamal Khan, et al.
Human Genetics|October 14, 2021
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing lossFarid Ullah, Waqar Rauf, Kamal Khan, et al.
Plos Genetics|March 29, 2008
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexesChunmei Li, Peter N Inglis, Carmen C Leitch, et al.
Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.
Journal of Medical Genetics|March 8, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosisPatrick Frosk, Heleen H Arts, Julien Philippe, et al.
American Journal of Human Genetics|August 4, 2016
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeAnna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, et al.
American Journal of Medical Genetics. Part A|February 24, 2023
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathySarah C Harris, Karen Chong, David Chitayat, et al.
American Journal of Human Genetics|April 22, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndromeAnna Lindstrand, Erica E Davis, Claudia M B Carvalho, et al.
American Journal of Human Genetics|May 28, 2019
Germline-Activating RRAS2 Mutations Cause Noonan SyndromeTetsuya Niihori, Koki Nagai, Atsushi Fujita, et al.
Pageof 13

Showing results (41-50 of 125) with videos related to

Sort By:
Pageof 13
Life (Basel, Switzerland)|January 21, 2022
HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial RegulationVanessa Cristina de Oliveira, Kelly Cristine Santos Roballo, Clésio Gomes Mariano Junior, et al.
Endocrinology|September 10, 2024
Identification of Environmental Compounds That May Trigger Early Female Puberty by Activating Human GnRHR and KISS1RShu Yang, Li Zhang, Kamal Khan, et al.
Human Genetics|October 14, 2021
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing lossFarid Ullah, Waqar Rauf, Kamal Khan, et al.
Plos Genetics|March 29, 2008
An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexesChunmei Li, Peter N Inglis, Carmen C Leitch, et al.
Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.
Journal of Medical Genetics|March 8, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosisPatrick Frosk, Heleen H Arts, Julien Philippe, et al.
American Journal of Human Genetics|August 4, 2016
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeAnna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, et al.
American Journal of Medical Genetics. Part A|February 24, 2023
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathySarah C Harris, Karen Chong, David Chitayat, et al.
American Journal of Human Genetics|April 22, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndromeAnna Lindstrand, Erica E Davis, Claudia M B Carvalho, et al.
American Journal of Human Genetics|May 28, 2019
Germline-Activating RRAS2 Mutations Cause Noonan SyndromeTetsuya Niihori, Koki Nagai, Atsushi Fujita, et al.
Pageof 13