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Showing results (271-280 of 276) with videos related to

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European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
The Journal of Clinical Investigation|August 8, 2017
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infectionsBenson Ogunjimi, Shen-Ying Zhang, Katrine B Sørensen, et al.
Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
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Showing results (271-280 of 276) with videos related to

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Pageof 28
You have reached the last page of results.This site can display upto 276 results.
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
The Journal of Clinical Investigation|August 8, 2017
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infectionsBenson Ogunjimi, Shen-Ying Zhang, Katrine B Sørensen, et al.
Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
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