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Natalie Lippa

Showing results (1-10 of 17) with videos related to

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Epilepsia Open|August 29, 2025
Barriers to the implementation of epilepsy genetic testing and counseling guidelinesSophie Melly, Amanda L Bergner, Tristan Sands, et al.
Journal of Medical Genetics|March 7, 2024
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohortBree E Martin, Tristan Sands, Louise Bier, et al.
Journal of Genetic Counseling|October 25, 2022
Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic CounselorsLacey Smith, Jennifer Malinowski, Sophia Ceulemans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2013
Morbidity and mortality in type B Niemann-Pick diseaseMargaret M McGovern, Natalie Lippa, Emilia Bagiella, et al.
Molecular Genetics and Metabolism|June 8, 2015
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiencyMelissa P Wasserstein, Simon A Jones, Handrean Soran, et al.
Frontiers in Physiology|October 5, 2020
A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and <i>in vitro</i> Rescue by β-HydroxybutyrateFrancesco Miceli, Lidia Carotenuto, Vincenzo Barrese, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2022
Diagnostic sequencing to support genetically stratified medicine in a tertiary care settingNatalie Lippa, Louise Bier, Anya Revah-Politi, et al.
The New England Journal of Medicine|August 14, 2020
Causal Genetic Variants in StillbirthKate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2023
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomaliesJeremiah Martino, Qingxue Liu, Katarina Vukojevic, et al.
Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
Epilepsia Open|August 29, 2025
Barriers to the implementation of epilepsy genetic testing and counseling guidelinesSophie Melly, Amanda L Bergner, Tristan Sands, et al.
Journal of Medical Genetics|March 7, 2024
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohortBree E Martin, Tristan Sands, Louise Bier, et al.
Journal of Genetic Counseling|October 25, 2022
Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic CounselorsLacey Smith, Jennifer Malinowski, Sophia Ceulemans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2013
Morbidity and mortality in type B Niemann-Pick diseaseMargaret M McGovern, Natalie Lippa, Emilia Bagiella, et al.
Molecular Genetics and Metabolism|June 8, 2015
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiencyMelissa P Wasserstein, Simon A Jones, Handrean Soran, et al.
Frontiers in Physiology|October 5, 2020
A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and <i>in vitro</i> Rescue by β-HydroxybutyrateFrancesco Miceli, Lidia Carotenuto, Vincenzo Barrese, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2022
Diagnostic sequencing to support genetically stratified medicine in a tertiary care settingNatalie Lippa, Louise Bier, Anya Revah-Politi, et al.
The New England Journal of Medicine|August 14, 2020
Causal Genetic Variants in StillbirthKate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2023
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomaliesJeremiah Martino, Qingxue Liu, Katarina Vukojevic, et al.
Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Pageof 2