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Erica E Davis

Showing results (51-60 of 125) with videos related to

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Molecular Genetics and Genomics : MGG|May 21, 2024
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELNTehseen Ullah Khan Afridi, Ambrin Fatima, Humayoon Shafique Satti, et al.
American Journal of Medical Genetics. Part A|June 9, 2023
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variantsSheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu, et al.
Journal of Cell Science|February 12, 2009
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsNathan J Bialas, Peter N Inglis, Chunmei Li, et al.
Science Signaling|October 12, 2017
Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defectsMary R Hutson, Anna L Keyte, Miriam Hernández-Morales, et al.
American Journal of Medical Genetics. Part A|May 23, 2026
Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated CriteriaJeremy J Pomeroy, Jesse Richards, Brooke R Sweeney, et al.
Cell Reports|September 26, 2019
Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial DevelopmentYuqi Qiu, Thomas Arbogast, Sandra Martin Lorenzo, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
Molecular Autism|October 13, 2017
Zebrafish knockout of Down syndrome gene, <i>DYRK1A</i>, shows social impairments relevant to autismOc-Hee Kim, Hyun-Ju Cho, Enna Han, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 12, 2009
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung diseaseLoïc de Pontual, Norann A Zaghloul, Sophie Thomas, et al.
Pageof 13

Showing results (51-60 of 125) with videos related to

Sort By:
Pageof 13
Molecular Genetics and Genomics : MGG|May 21, 2024
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELNTehseen Ullah Khan Afridi, Ambrin Fatima, Humayoon Shafique Satti, et al.
American Journal of Medical Genetics. Part A|June 9, 2023
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variantsSheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu, et al.
Journal of Cell Science|February 12, 2009
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteinsNathan J Bialas, Peter N Inglis, Chunmei Li, et al.
Science Signaling|October 12, 2017
Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defectsMary R Hutson, Anna L Keyte, Miriam Hernández-Morales, et al.
American Journal of Medical Genetics. Part A|May 23, 2026
Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated CriteriaJeremy J Pomeroy, Jesse Richards, Brooke R Sweeney, et al.
Cell Reports|September 26, 2019
Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial DevelopmentYuqi Qiu, Thomas Arbogast, Sandra Martin Lorenzo, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
Molecular Autism|October 13, 2017
Zebrafish knockout of Down syndrome gene, <i>DYRK1A</i>, shows social impairments relevant to autismOc-Hee Kim, Hyun-Ju Cho, Enna Han, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 12, 2009
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung diseaseLoïc de Pontual, Norann A Zaghloul, Sophie Thomas, et al.
Pageof 13