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Renzo Guerrini

Showing results (441-450 of 611) with videos related to

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Neurology. Genetics|November 11, 2016
Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsyRikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.
Epilepsia|February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsiesDeclan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
Human Molecular Genetics|December 7, 2017
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiencyGiuseppe Punzi, Vito Porcelli, Matteo Ruggiu, et al.
Neurology|September 15, 2021
Multicenter Validation of a Deep Learning Detection Algorithm for Focal Cortical DysplasiaRavnoor Singh Gill, Hyo-Min Lee, Benoit Caldairou, et al.
The Journal of Clinical Investigation|July 9, 2024
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanismMartina Riva, Sofia Ferreira, Kotaro Hayashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
Human Molecular Genetics|July 1, 2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiencyChuan Tan, Chloe Shard, Enzo Ranieri, et al.
European Journal of Human Genetics : EJHG|February 1, 2007
Linkage and association analysis of CACNG3 in childhood absence epilepsyKate V Everett, Barry Chioza, Jean Aicardi, et al.
Epilepsia|October 24, 2006
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutationsMaria Margherita Mancardi, Pasquale Striano, Elena Gennaro, et al.
Pageof 62

Showing results (441-450 of 611) with videos related to

Sort By:
Pageof 62
Neurology. Genetics|November 11, 2016
Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsyRikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.
Epilepsia|February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsiesDeclan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
Human Molecular Genetics|December 7, 2017
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiencyGiuseppe Punzi, Vito Porcelli, Matteo Ruggiu, et al.
Neurology|September 15, 2021
Multicenter Validation of a Deep Learning Detection Algorithm for Focal Cortical DysplasiaRavnoor Singh Gill, Hyo-Min Lee, Benoit Caldairou, et al.
The Journal of Clinical Investigation|July 9, 2024
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanismMartina Riva, Sofia Ferreira, Kotaro Hayashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
Human Molecular Genetics|July 1, 2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiencyChuan Tan, Chloe Shard, Enzo Ranieri, et al.
European Journal of Human Genetics : EJHG|February 1, 2007
Linkage and association analysis of CACNG3 in childhood absence epilepsyKate V Everett, Barry Chioza, Jean Aicardi, et al.
Epilepsia|October 24, 2006
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutationsMaria Margherita Mancardi, Pasquale Striano, Elena Gennaro, et al.
Pageof 62