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Ana Camacho

Showing results (91-100 of 99) with videos related to

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Neurogenetics|July 23, 2021
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation centerJuan F Quesada-Espinosa, Lucía Garzón-Lorenzo, José M Lezana-Rosales, et al.
Journal of Medical Genetics|May 17, 2023
Expanding the phenotypic spectrum of <i>TRAPPC11-</i>related muscular dystrophy: 25 Roma individuals carrying a founder variantMaria Justel, Cristina Jou, Andrea Sariego-Jamardo, et al.
Medicina Clinica|January 28, 2019
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's diseaseGerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, et al.
Epilepsia|May 25, 2026
Epileptic and developmental encephalopathy secondary to inversion-duplication of chromosome 15: Description of epilepsy characteristics and therapeutic outcomesCristina Benítez-Provedo, Marta García-Fernández, Eva Gutiérrez-Delicado, et al.
Frontiers in Cell and Developmental Biology|June 3, 2026
Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.
Frontiers in Cell and Developmental Biology|March 20, 2024
Developmental outcome of electroencephalographic findings in <i>SYNGAP1</i> encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.
Brain : a Journal of Neurology|September 3, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathyJorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, et al.
Neurobiology of Disease|March 19, 2026
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathySelena Aranda, Juliana Ribeiro-Constante, Alba Tristán-Noguero, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Pageof 10

Showing results (91-100 of 99) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 99 results.
Neurogenetics|July 23, 2021
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation centerJuan F Quesada-Espinosa, Lucía Garzón-Lorenzo, José M Lezana-Rosales, et al.
Journal of Medical Genetics|May 17, 2023
Expanding the phenotypic spectrum of <i>TRAPPC11-</i>related muscular dystrophy: 25 Roma individuals carrying a founder variantMaria Justel, Cristina Jou, Andrea Sariego-Jamardo, et al.
Medicina Clinica|January 28, 2019
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's diseaseGerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, et al.
Epilepsia|May 25, 2026
Epileptic and developmental encephalopathy secondary to inversion-duplication of chromosome 15: Description of epilepsy characteristics and therapeutic outcomesCristina Benítez-Provedo, Marta García-Fernández, Eva Gutiérrez-Delicado, et al.
Frontiers in Cell and Developmental Biology|June 3, 2026
Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.
Frontiers in Cell and Developmental Biology|March 20, 2024
Developmental outcome of electroencephalographic findings in <i>SYNGAP1</i> encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.
Brain : a Journal of Neurology|September 3, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathyJorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, et al.
Neurobiology of Disease|March 19, 2026
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathySelena Aranda, Juliana Ribeiro-Constante, Alba Tristán-Noguero, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
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