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Erica E Davis

Showing results (101-110 of 125) with videos related to

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American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
American Journal of Human Genetics|December 7, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsJason A O'Rawe, Yiyang Wu, Max J Dörfel, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Nature Communications|November 3, 2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleGerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, et al.
Brain : a Journal of Neurology|June 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent contextPierre Tilliole, Carolin Mattausch, Peggy Tilly, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
Nature Communications|November 5, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J Grange, John J Reynolds, Farid Ullah, et al.
American Journal of Human Genetics|November 4, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSimone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.
Pageof 13

Showing results (101-110 of 125) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
American Journal of Human Genetics|December 7, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsJason A O'Rawe, Yiyang Wu, Max J Dörfel, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
Nature Communications|November 3, 2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleGerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, et al.
Brain : a Journal of Neurology|June 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent contextPierre Tilliole, Carolin Mattausch, Peggy Tilly, et al.
Nature Genetics|January 25, 2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumErica E Davis, Qi Zhang, Qin Liu, et al.
Nature Communications|November 5, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J Grange, John J Reynolds, Farid Ullah, et al.
American Journal of Human Genetics|November 4, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSimone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.
Pageof 13