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Saumya S Jamuar

Showing results (1-10 of 42) with videos related to

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The New England Journal of Medicine|November 20, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Christopher A Walsh
Pediatric Clinics of North America|May 30, 2015
Genomic variants and variations in malformations of cortical developmentSaumya S Jamuar, Christopher A Walsh
Therapeutic Advances in Hematology|April 26, 2013
Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemiaSaumya S Jamuar, Angeline H M Lai
The Journal of Pediatrics|February 6, 2018
Utility of Genetic Testing in Fetal Alcohol Spectrum DisorderSaumya S Jamuar, Jonathan D Picker, Joan M Stoler
Clinical Dysmorphology|March 29, 2019
Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotypeYi-Rong Chew, Jiin-Ying Lim, Oon-Hoe Teoh, et al.
Clinical Dysmorphology|March 5, 2024
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast AsiaJeannette Goh, Heming Wei, Angeline H M Lai, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|July 7, 2023
Identification of a de novo Case of COL3A1 -Related Ehlers-Danlos Syndrome in a Young Woman Presenting With Spontaneous Direct Carotid-Cavernous FistulaHnin Hnin Oo, Saravana K Swaminathan, Wickly Lee, et al.
Neuron|December 6, 2015
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic MechanismsAlissa M D'Gama, Sirisha Pochareddy, Mingfeng Li, et al.
Frontiers in Medicine|March 19, 2019
From Big Data to Precision MedicineTim Hulsen, Saumya S Jamuar, Alan R Moody, et al.
Molecular Syndromology|May 15, 2025
A Novel <i>GATAD2B</i> Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with CamptodactylyCheryl Weiqi Tan, Jiin Ying Lim, Khadijah Rafi'ee, et al.
Pageof 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
The New England Journal of Medicine|November 20, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Christopher A Walsh
Pediatric Clinics of North America|May 30, 2015
Genomic variants and variations in malformations of cortical developmentSaumya S Jamuar, Christopher A Walsh
Therapeutic Advances in Hematology|April 26, 2013
Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemiaSaumya S Jamuar, Angeline H M Lai
The Journal of Pediatrics|February 6, 2018
Utility of Genetic Testing in Fetal Alcohol Spectrum DisorderSaumya S Jamuar, Jonathan D Picker, Joan M Stoler
Clinical Dysmorphology|March 29, 2019
Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotypeYi-Rong Chew, Jiin-Ying Lim, Oon-Hoe Teoh, et al.
Clinical Dysmorphology|March 5, 2024
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast AsiaJeannette Goh, Heming Wei, Angeline H M Lai, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|July 7, 2023
Identification of a de novo Case of COL3A1 -Related Ehlers-Danlos Syndrome in a Young Woman Presenting With Spontaneous Direct Carotid-Cavernous FistulaHnin Hnin Oo, Saravana K Swaminathan, Wickly Lee, et al.
Neuron|December 6, 2015
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic MechanismsAlissa M D'Gama, Sirisha Pochareddy, Mingfeng Li, et al.
Frontiers in Medicine|March 19, 2019
From Big Data to Precision MedicineTim Hulsen, Saumya S Jamuar, Alan R Moody, et al.
Molecular Syndromology|May 15, 2025
A Novel <i>GATAD2B</i> Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with CamptodactylyCheryl Weiqi Tan, Jiin Ying Lim, Khadijah Rafi'ee, et al.
Pageof 5