Showing results (1-10 of 13) with videos related to
Sort By:
Pageof 2
Journal of Pediatric Genetics|January 25, 2020
A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf SyndromeAngita Jain, Pavalan Selvam, Herjot Atwal, et al.Journal of Pediatric Genetics|April 29, 2020
Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the LiteraturePavalan Selvam, Shekhar Singh, Angita Jain, et al.Cancer Genetics|May 22, 2019
Evaluating gene fusions in solid tumors - Clinical experience using an RNA based 53 gene next-generation sequencing panelPavalan Selvam, Kevin Kelly, Andrew N Hesse, et al.American Journal of Medical Genetics. Part A|November 9, 2020
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growthPavalan Selvam, Angita Jain, Anvir Cheema, et al.Cancer Genetics|January 25, 2021
Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effectJohn E Richter, S Hines, Pavalan Selvam, et al.European Journal of Human Genetics : EJHG|October 6, 2022
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder eventAnanthapadmanabha Kotambail, Pavalan Selvam, Karthik Muthusamy, et al.American Journal of Medical Genetics. Part A|April 9, 2022
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac featuresKatta Lavanya, Karishma Mahtani, Jessica Abbott, et al.Journal of Clinical Neuromuscular Disease|August 21, 2018
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian CohortPavalan Selvam, Gautham Arunachal, Sumita Danda, et al.Biomarker Insights|February 13, 2019
Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitorTM AssayBridgette A Sisson, Jasmina Uvalic, Kevin Kelly, et al.Molecular Syndromology|September 26, 2022
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful PregnanciesPavalan Selvam, Angita Jain, Jessica Abbott, et al.Pageof 2