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Renzo Guerrini

Showing results (501-510 of 611) with videos related to

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Neurology|October 11, 2013
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patientsSarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|May 26, 2007
Genetics of epilepsy: epilepsy research foundation workshop reportSanjay Sisodiya, J Helen Cross, Ingmar Blümcke, et al.
Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.
Orphanet Journal of Rare Diseases|September 28, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyGuja Astrea, Alessandro Romano, Corrado Angelini, et al.
Epilepsia|February 6, 2019
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsyHerbert Schulz, Ann-Kathrin Ruppert, Federico Zara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2022
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndromeFrancis Ramond, Caroline Dalgliesh, Mona Grimmel, et al.
Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Genome Medicine|March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disordersDennis Lal, Patrick May, Eduardo Perez-Palma, et al.
Human Mutation|January 15, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato, Soma Das, Kristin Petras, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
Pageof 62

Showing results (501-510 of 611) with videos related to

Sort By:
Pageof 62
Neurology|October 11, 2013
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patientsSarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|May 26, 2007
Genetics of epilepsy: epilepsy research foundation workshop reportSanjay Sisodiya, J Helen Cross, Ingmar Blümcke, et al.
Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.
Orphanet Journal of Rare Diseases|September 28, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyGuja Astrea, Alessandro Romano, Corrado Angelini, et al.
Epilepsia|February 6, 2019
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsyHerbert Schulz, Ann-Kathrin Ruppert, Federico Zara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2022
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndromeFrancis Ramond, Caroline Dalgliesh, Mona Grimmel, et al.
Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Genome Medicine|March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disordersDennis Lal, Patrick May, Eduardo Perez-Palma, et al.
Human Mutation|January 15, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato, Soma Das, Kristin Petras, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
Pageof 62