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E Martina Bebin

Showing results (71-80 of 88) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2018
Genomic sequencing identifies secondary findings in a cohort of parent study participantsMichelle L Thompson, Candice R Finnila, Kevin M Bowling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
A state-based approach to genomics for rare disease and population screeningKelly M East, Whitley V Kelley, Ashley Cannon, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 25, 2022
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disordersJian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, et al.
Pediatric Neurology|October 8, 2025
Neurodevelopmental Outcomes From the PREVeNT TrialSarah E O'Kelley, Jamie K Capal, Tarrant O McPherson, et al.
Pediatric Neurology|March 29, 2026
Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT StudyTarrant O McPherson, E Martina Bebin, Laura S Farach, et al.
Genome Medicine|May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delayKevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Pediatric Neurology|August 16, 2021
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management RecommendationsHope Northrup, Mary E Aronow, E Martina Bebin, et al.
Pediatric Neurology|May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated SyndromeHannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial EndpointsLatha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, et al.
Pageof 9

Showing results (71-80 of 88) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2018
Genomic sequencing identifies secondary findings in a cohort of parent study participantsMichelle L Thompson, Candice R Finnila, Kevin M Bowling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
A state-based approach to genomics for rare disease and population screeningKelly M East, Whitley V Kelley, Ashley Cannon, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 25, 2022
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disordersJian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, et al.
Pediatric Neurology|October 8, 2025
Neurodevelopmental Outcomes From the PREVeNT TrialSarah E O'Kelley, Jamie K Capal, Tarrant O McPherson, et al.
Pediatric Neurology|March 29, 2026
Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT StudyTarrant O McPherson, E Martina Bebin, Laura S Farach, et al.
Genome Medicine|May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delayKevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Pediatric Neurology|August 16, 2021
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management RecommendationsHope Northrup, Mary E Aronow, E Martina Bebin, et al.
Pediatric Neurology|May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated SyndromeHannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial EndpointsLatha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, et al.
Pageof 9