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Elizabeth Scotchman

Showing results (11-20 of 15) with videos related to

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Clinical Chemistry|April 9, 2024
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous FamiliesBritt Hanson, Joe Shaw, Nikita Povarnitsyn, et al.
Expert Review of Molecular Diagnostics|August 29, 2023
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implicationsWilliam L Macken, Micol Falabella, Chiara Pizzamiglio, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
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Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 15 results.
Clinical Chemistry|April 9, 2024
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous FamiliesBritt Hanson, Joe Shaw, Nikita Povarnitsyn, et al.
Expert Review of Molecular Diagnostics|August 29, 2023
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implicationsWilliam L Macken, Micol Falabella, Chiara Pizzamiglio, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
The Lancet. Neurology|August 18, 2023
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort studyAlissa M D'Gama, Sarah Mulhern, Beth R Sheidley, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Pageof 2