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Edgard Verdura

Showing results (21-30 of 28) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
American Journal of Human Genetics|October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsIrit Hochberg, Leigh A M Demain, Julie Richer, et al.
European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
Journal of Medical Genetics|May 16, 2020
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.
Nature Communications|May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorderSukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.
Nature Communications|February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2021
DLG4-related synaptopathy: a new rare brain disorderAgustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
Pageof 3

Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
American Journal of Human Genetics|October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsIrit Hochberg, Leigh A M Demain, Julie Richer, et al.
European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
Journal of Medical Genetics|May 16, 2020
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.
Nature Communications|May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorderSukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.
Nature Communications|February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2021
DLG4-related synaptopathy: a new rare brain disorderAgustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
Pageof 3