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Swaroop Aradhya

Showing results (41-50 of 87) with videos related to

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Epilepsia Open|December 10, 2023
Early genetic testing in pediatric epilepsy: Diagnostic and cost implicationsShanna M Swartwood, Ana Morales, Kathryn E Hatchell, et al.
Genomics|February 6, 2002
Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28Swaroop Aradhya, Hayley Woffendin, Penelope Bonnen, et al.
The Journal of Craniofacial Surgery|January 26, 2013
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosisMatthew R Greives, Eric A Odessey, Darrel J Waggoner, et al.
American Journal of Medical Genetics. Part A|May 13, 2006
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridizationJoseph T C Shieh, Swaroop Aradhya, Antonio Novelli, et al.
Frontiers in Neurology|May 24, 2021
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 IndividualsB Monica Bowen, Rebecca Truty, Swaroop Aradhya, et al.
Circulation. Genomic and Precision Medicine|February 19, 2025
Analysis of <i>TTN</i> Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene RegionsMatteo Vatta, Ellen Regalado, Michael Parfenov, et al.
Neurology. Genetics|April 28, 2020
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disordersThomas L Winder, Christopher A Tan, Sarah Klemm, et al.
Neurology. Genetics|December 20, 2021
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic FindingsDianalee McKnight, Sara L Bristow, Rebecca M Truty, et al.
American Journal of Medical Genetics. Part A|May 4, 2024
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to dateGretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, et al.
Kidney360|September 21, 2022
The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKDKenneth V Lieberman, Alexander R Chang, Geoffrey A Block, et al.
Pageof 9

Showing results (41-50 of 87) with videos related to

Sort By:
Pageof 9
Epilepsia Open|December 10, 2023
Early genetic testing in pediatric epilepsy: Diagnostic and cost implicationsShanna M Swartwood, Ana Morales, Kathryn E Hatchell, et al.
Genomics|February 6, 2002
Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28Swaroop Aradhya, Hayley Woffendin, Penelope Bonnen, et al.
The Journal of Craniofacial Surgery|January 26, 2013
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosisMatthew R Greives, Eric A Odessey, Darrel J Waggoner, et al.
American Journal of Medical Genetics. Part A|May 13, 2006
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridizationJoseph T C Shieh, Swaroop Aradhya, Antonio Novelli, et al.
Frontiers in Neurology|May 24, 2021
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 IndividualsB Monica Bowen, Rebecca Truty, Swaroop Aradhya, et al.
Circulation. Genomic and Precision Medicine|February 19, 2025
Analysis of <i>TTN</i> Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene RegionsMatteo Vatta, Ellen Regalado, Michael Parfenov, et al.
Neurology. Genetics|April 28, 2020
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disordersThomas L Winder, Christopher A Tan, Sarah Klemm, et al.
Neurology. Genetics|December 20, 2021
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic FindingsDianalee McKnight, Sara L Bristow, Rebecca M Truty, et al.
American Journal of Medical Genetics. Part A|May 4, 2024
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to dateGretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, et al.
Kidney360|September 21, 2022
The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKDKenneth V Lieberman, Alexander R Chang, Geoffrey A Block, et al.
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