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Kelly Schoch

Showing results (21-30 of 69) with videos related to

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Orphanet Journal of Rare Diseases|April 19, 2017
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases NetworkRebecca C Spillmann, Allyn McConkie-Rosell, Loren Pena, et al.
Journal of Genetic Counseling|June 11, 2021
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examplesAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnosesKelly Schoch, Queenie K-G Tan, Nicholas Stong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 10, 2013
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disordersVandana Shashi, Allyn McConkie-Rosell, Bruce Rosell, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 21, 2024
Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disordersDavid C Calianese, Tomoyasu Noji, Jennifer A Sullivan, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencingVandana Shashi, Slavé Petrovski, Kelly Schoch, et al.
Clinical Genetics|October 19, 2023
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinicJennifer A Sullivan, Rebecca C Spillmann, Kelly Schoch, et al.
Journal of Genetic Counseling|February 13, 2016
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed DisordersAllyn McConkie Rosell, Loren D M Pena, Kelly Schoch, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathyLucy McNamee, Kelly Schoch, Alden Huang, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challengeAravindhan Veerapandiyan, Omar A Abdul-Rahman, Margaret P Adam, et al.
Pageof 7

Showing results (21-30 of 69) with videos related to

Sort By:
Pageof 7
Orphanet Journal of Rare Diseases|April 19, 2017
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases NetworkRebecca C Spillmann, Allyn McConkie-Rosell, Loren Pena, et al.
Journal of Genetic Counseling|June 11, 2021
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examplesAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnosesKelly Schoch, Queenie K-G Tan, Nicholas Stong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 10, 2013
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disordersVandana Shashi, Allyn McConkie-Rosell, Bruce Rosell, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 21, 2024
Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disordersDavid C Calianese, Tomoyasu Noji, Jennifer A Sullivan, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencingVandana Shashi, Slavé Petrovski, Kelly Schoch, et al.
Clinical Genetics|October 19, 2023
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinicJennifer A Sullivan, Rebecca C Spillmann, Kelly Schoch, et al.
Journal of Genetic Counseling|February 13, 2016
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed DisordersAllyn McConkie Rosell, Loren D M Pena, Kelly Schoch, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathyLucy McNamee, Kelly Schoch, Alden Huang, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challengeAravindhan Veerapandiyan, Omar A Abdul-Rahman, Margaret P Adam, et al.
Pageof 7