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Elizabeth E Blue

Showing results (51-60 of 68) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discoverySamantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
Birth Defects Research|July 23, 2019
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental dataMary M Jenkins, Lynn M Almli, Faith Pangilinan, et al.
American Journal of Respiratory and Critical Care Medicine|March 15, 2023
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 PatientsYi-Hui Zhou, Paul J Gallins, Rhonda G Pace, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Birth Defects Research|April 30, 2025
Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention StudyTonia C Carter, Denise M Kay, Faith Pangilinan, et al.
Human Mutation|June 20, 2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humansTimothy C Cox, Andrew C Lidral, Jason C McCoy, et al.
American Journal of Medical Genetics. Part A|March 21, 2023
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variantsPagna Sok, Aniko Sabo, Lynn M Almli, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Medrxiv : the Preprint Server for Health Sciences|September 11, 2023
Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing ProjectWan-Ping Lee, Seung Hoan Choi, Margaret G Shea, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Pageof 7

Showing results (51-60 of 68) with videos related to

Sort By:
Pageof 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discoverySamantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
Birth Defects Research|July 23, 2019
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental dataMary M Jenkins, Lynn M Almli, Faith Pangilinan, et al.
American Journal of Respiratory and Critical Care Medicine|March 15, 2023
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 PatientsYi-Hui Zhou, Paul J Gallins, Rhonda G Pace, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Birth Defects Research|April 30, 2025
Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention StudyTonia C Carter, Denise M Kay, Faith Pangilinan, et al.
Human Mutation|June 20, 2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humansTimothy C Cox, Andrew C Lidral, Jason C McCoy, et al.
American Journal of Medical Genetics. Part A|March 21, 2023
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variantsPagna Sok, Aniko Sabo, Lynn M Almli, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Medrxiv : the Preprint Server for Health Sciences|September 11, 2023
Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing ProjectWan-Ping Lee, Seung Hoan Choi, Margaret G Shea, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Pageof 7