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Lance H Rodan

Showing results (31-40 of 76) with videos related to

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Pediatric Neurology|October 8, 2017
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase DeficiencyRéjean M Guerriero, Archana A Patel, Brian Walsh, et al.
Annals of Clinical and Translational Neurology|March 17, 2022
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosisJulian E Alecu, Afshin Saffari, Hellen Jumo, et al.
Genetics|June 14, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogasterSharayu V Jangam, Lauren C Briere, Kristy L Jay, et al.
Stroke|October 31, 2009
A citywide prehospital protocol increases access to stroke thrombolysis in TorontoDavid J Gladstone, Lance H Rodan, Demetrios J Sahlas, et al.
Molecular Genetics and Metabolism Reports|September 17, 2025
Lethal neonatal acidosis: Multiomic investigation of a novel <i>HIBCH</i> variant as the underlying causeSonali Patel, Muhammad Zain-Ul-Abideen, Genevieve Guyol, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
JIMD Reports|July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two IndividualsMonica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.
Journal of Child Neurology|April 8, 2016
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case SeriesMarisela E Dy, Florence C F Chang, Sol De Jesus, et al.
Annals of Neurology|April 3, 2019
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanismAndrew B Stergachis, Jonai Pujol-Giménez, Gergely Gyimesi, et al.
Pageof 8

Showing results (31-40 of 76) with videos related to

Sort By:
Pageof 8
Pediatric Neurology|October 8, 2017
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase DeficiencyRéjean M Guerriero, Archana A Patel, Brian Walsh, et al.
Annals of Clinical and Translational Neurology|March 17, 2022
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosisJulian E Alecu, Afshin Saffari, Hellen Jumo, et al.
Genetics|June 14, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogasterSharayu V Jangam, Lauren C Briere, Kristy L Jay, et al.
Stroke|October 31, 2009
A citywide prehospital protocol increases access to stroke thrombolysis in TorontoDavid J Gladstone, Lance H Rodan, Demetrios J Sahlas, et al.
Molecular Genetics and Metabolism Reports|September 17, 2025
Lethal neonatal acidosis: Multiomic investigation of a novel <i>HIBCH</i> variant as the underlying causeSonali Patel, Muhammad Zain-Ul-Abideen, Genevieve Guyol, et al.
American Journal of Medical Genetics. Part A|November 27, 2018
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalitiesLance H Rodan, Kwame Anyane-Yeboa, Karen Chong, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
JIMD Reports|July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two IndividualsMonica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.
Journal of Child Neurology|April 8, 2016
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case SeriesMarisela E Dy, Florence C F Chang, Sol De Jesus, et al.
Annals of Neurology|April 3, 2019
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanismAndrew B Stergachis, Jonai Pujol-Giménez, Gergely Gyimesi, et al.
Pageof 8