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Sonal Mahida

Showing results (11-20 of 34) with videos related to

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Epilepsia|January 21, 2020
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohortAnne Rochtus, Heather E Olson, Lacey Smith, et al.
Neurology|February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental SyndromeMaike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsyMin Ni, Bushra Afroze, Chao Xing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 7, 2023
Clinical variants paired with phenotype: A rich resource for brain gene curationMaya Chopra, Juliann M Savatt, Taylor I Bingaman, et al.
JAMA Network Open|July 20, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset EpilepsyHyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, et al.
Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, et al.
Molecular Autism|October 26, 2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autismHyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, et al.
Brain : a Journal of Neurology|June 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndromeMatthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
Epilepsia|January 21, 2020
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohortAnne Rochtus, Heather E Olson, Lacey Smith, et al.
Neurology|February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental SyndromeMaike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsyMin Ni, Bushra Afroze, Chao Xing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 7, 2023
Clinical variants paired with phenotype: A rich resource for brain gene curationMaya Chopra, Juliann M Savatt, Taylor I Bingaman, et al.
JAMA Network Open|July 20, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset EpilepsyHyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, et al.
Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, et al.
Molecular Autism|October 26, 2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autismHyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, et al.
Brain : a Journal of Neurology|June 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndromeMatthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.
Pageof 4