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Showing results (311-320 of 334) with videos related to

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Oncotarget|May 13, 2015
Stromal androgen receptor regulates the composition of the microenvironment to influence prostate cancer outcomeDamien A Leach, Eleanor F Need, Roxanne Toivanen, et al.
Molecular Metabolism|March 12, 2018
Skeletal muscle O-GlcNAc transferase is important for muscle energy homeostasis and whole-body insulin sensitivityHao Shi, Alexander Munk, Thomas S Nielsen, et al.
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.
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.
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.
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.
American Journal of Human Genetics|June 29, 2021
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disordersAnna R Duncan, Maya M Polovitskaya, Héctor Gaitán-Peñas, et al.
American Journal of Human Genetics|April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalitiesMédéric Jeanne, Hélène Demory, Aubin Moutal, et al.
Pageof 34

Showing results (311-320 of 334) with videos related to

Sort By:
Pageof 34
Oncotarget|May 13, 2015
Stromal androgen receptor regulates the composition of the microenvironment to influence prostate cancer outcomeDamien A Leach, Eleanor F Need, Roxanne Toivanen, et al.
Molecular Metabolism|March 12, 2018
Skeletal muscle O-GlcNAc transferase is important for muscle energy homeostasis and whole-body insulin sensitivityHao Shi, Alexander Munk, Thomas S Nielsen, et al.
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.
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.
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.
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.
American Journal of Human Genetics|June 29, 2021
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disordersAnna R Duncan, Maya M Polovitskaya, Héctor Gaitán-Peñas, et al.
American Journal of Human Genetics|April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalitiesMédéric Jeanne, Hélène Demory, Aubin Moutal, et al.
Pageof 34