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Sonal Mahida

Showing results (21-30 of 34) with videos related to

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Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Human Mutation|February 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentGeeske M van Woerden, Melanie Bos, Charlotte de Konink, et al.
American Journal of Human Genetics|November 3, 2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyIna Schanze, Jens Bunt, Jonathan W C Lim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizuresMariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
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Showing results (21-30 of 34) with videos related to

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Pageof 4
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Human Mutation|February 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentGeeske M van Woerden, Melanie Bos, Charlotte de Konink, et al.
American Journal of Human Genetics|November 3, 2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyIna Schanze, Jens Bunt, Jonathan W C Lim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizuresMariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
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