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Elizabeth C Engle

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

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Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.
Human Mutation|October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndromeAshley P L Marsh, Timothy J Edwards, Charles Galea, et al.
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Investigative Ophthalmology & Visual Science|June 30, 2004
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)Koki Yamada, Wai-Man Chan, Caroline Andrews, et al.
Nature Communications|September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Investigative Ophthalmology & Visual Science|March 31, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding MicroarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Nature Genetics|March 3, 2017
Biallelic mutations in human DCC cause developmental split-brain syndromeSaumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, et al.
Biorxiv : the Preprint Server for Biology|September 24, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorderFrançois Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
Pageof 13

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

Sort By:
Pageof 13
Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.
Human Mutation|October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndromeAshley P L Marsh, Timothy J Edwards, Charles Galea, et al.
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Investigative Ophthalmology & Visual Science|June 30, 2004
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)Koki Yamada, Wai-Man Chan, Caroline Andrews, et al.
Nature Communications|September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Investigative Ophthalmology & Visual Science|March 31, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding MicroarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Nature Genetics|March 3, 2017
Biallelic mutations in human DCC cause developmental split-brain syndromeSaumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, et al.
Biorxiv : the Preprint Server for Biology|September 24, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorderFrançois Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
Pageof 13