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Kristi J Jones

Showing results (41-50 of 47) with videos related to

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Neurology|January 11, 2019
Assessment of disease progression in dysferlinopathy: A 1-year cohort studyUrsula Moore, Marni Jacobs, Meredith K James, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
American Journal of Human Genetics|January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 5

Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Neurology|January 11, 2019
Assessment of disease progression in dysferlinopathy: A 1-year cohort studyUrsula Moore, Marni Jacobs, Meredith K James, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
American Journal of Human Genetics|January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
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