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Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|December 25, 2002
Interstitial telomeric sites and NORs in Hartmann's zebra (Equus zebra hartmannae) chromosomesAvni Santani, Terje Raudsepp, Bhanu P Chowdhary
Genetics in Medicine Open|January 17, 2025
Applications of genome sequencing as a single platform for clinical constitutional genetic testingYao Yang, Daniela Del Gaudio, Avni Santani, et al.
Molecular Diagnosis & Therapy|July 20, 2021
Clinical Exome Reanalysis: Current Practice and BeyondJianling Ji, Marco L Leung, Samuel Baker, et al.
European Journal of Medical Genetics|March 15, 2020
Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease lociElizabeth J Bhoj, Farrah Rajabi, Samuel W Baker, et al.
Archives of Pathology & Laboratory Medicine|April 1, 2017
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited DiseaseMadhuri Hegde, Avni Santani, Rong Mao, et al.
Scientific Data|January 9, 2020
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR PanelMarco L Leung, Deborah J Watson, Courtney N Vaccaro, et al.
Archives of Pathology & Laboratory Medicine|March 22, 2017
Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited DiseasesAvni Santani, Jill Murrell, Birgit Funke, et al.
American Journal of Medical Genetics. Part A|March 22, 2020
NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosusAlyssa Ritter, Petra Werner, Brande Latney, et al.
The Journal of Molecular Diagnostics : JMD|May 19, 2023
Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic CounselorsKristy R Crooks, Kelly D Farwell Hagman, Diana Mandelker, et al.
The Journal of Molecular Diagnostics : JMD|January 4, 2019
Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical LaboratoriesAvni Santani, Birgitte B Simen, Marian Briggs, et al.
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