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Renzo Guerrini

Showing results (401-410 of 611) with videos related to

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Stem Cell Research|April 14, 2022
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B geneAna Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
JAMA Neurology|May 2, 2022
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical TrialKelly G Knupp, Ingrid E Scheffer, Berten Ceulemans, et al.
Brain : a Journal of Neurology|March 23, 2013
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Elisabeth Stogmann, Eva Reinthaler, Salwa Eltawil, et al.
Epilepsy Research|August 9, 2019
Genetic heterogeneity in infantile spasmsAlison M Muir, Candace T Myers, Nancy T Nguyen, et al.
Epilepsia|May 11, 2019
Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasiaKatja Kobow, Mark Ziemann, Harikrishnan Kaipananickal, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocolSimone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Molecular Genetics and Metabolism|April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burdenSabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Epilepsia|January 29, 2011
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patientsFrancesca Ragona, Tiziana Granata, Bernardo Dalla Bernardina, et al.
Clinical Genetics|August 20, 2021
Clinical and molecular delineation of PUS3-associated neurodevelopmental disordersMiriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, et al.
Pageof 62

Showing results (401-410 of 611) with videos related to

Sort By:
Pageof 62
Stem Cell Research|April 14, 2022
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B geneAna Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
JAMA Neurology|May 2, 2022
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical TrialKelly G Knupp, Ingrid E Scheffer, Berten Ceulemans, et al.
Brain : a Journal of Neurology|March 23, 2013
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Elisabeth Stogmann, Eva Reinthaler, Salwa Eltawil, et al.
Epilepsy Research|August 9, 2019
Genetic heterogeneity in infantile spasmsAlison M Muir, Candace T Myers, Nancy T Nguyen, et al.
Epilepsia|May 11, 2019
Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasiaKatja Kobow, Mark Ziemann, Harikrishnan Kaipananickal, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocolSimone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Molecular Genetics and Metabolism|April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burdenSabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Epilepsia|January 29, 2011
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patientsFrancesca Ragona, Tiziana Granata, Bernardo Dalla Bernardina, et al.
Clinical Genetics|August 20, 2021
Clinical and molecular delineation of PUS3-associated neurodevelopmental disordersMiriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, et al.
Pageof 62