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Rani Sachdev

Showing results (21-30 of 51) with videos related to

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Journal of Paediatrics and Child Health|December 20, 2022
Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programmeFleur A Le Marne, Nancy Briggs, Katie Frith, et al.
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowthFrederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
Cell Reports|October 26, 2017
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic EncephalopathySushmitha Gururaj, Elizabeth Emma Palmer, Garrett D Sheehan, et al.
Molecular Genetics and Metabolism|August 31, 2015
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagineElizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, et al.
Journal of Paediatrics and Child Health|February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testingRani Sachdev, Mike Field, Gareth S Baynam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersLisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Molecular Genetics & Genomic Medicine|June 2, 2015
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approachIsabel Marques, Maria João Sá, Gabriela Soares, et al.
Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Pageof 6

Showing results (21-30 of 51) with videos related to

Sort By:
Pageof 6
Journal of Paediatrics and Child Health|December 20, 2022
Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programmeFleur A Le Marne, Nancy Briggs, Katie Frith, et al.
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowthFrederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
Cell Reports|October 26, 2017
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic EncephalopathySushmitha Gururaj, Elizabeth Emma Palmer, Garrett D Sheehan, et al.
Molecular Genetics and Metabolism|August 31, 2015
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagineElizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, et al.
Journal of Paediatrics and Child Health|February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testingRani Sachdev, Mike Field, Gareth S Baynam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersLisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Molecular Genetics & Genomic Medicine|June 2, 2015
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approachIsabel Marques, Maria João Sá, Gabriela Soares, et al.
Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Pageof 6