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Practical Neurology
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October 17, 2022
Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics
Katherine R Schon, Patrick F Chinnery
Trends in Genetics : TIG
|
July 18, 2020
Mitochondrial Diseases: A Diagnostic Revolution
Katherine R Schon, Thiloka Ratnaike, Jelle van den Ameele, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology
|
July 13, 2023
Multisystem pathology in McLeod syndrome
Katherine R Schon, Dominic G O'Donovan, Mayen Briggs, et al.
Annals of Clinical and Translational Neurology
|
August 2, 2024
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Fei Gao, Katherine R Schon, Jana Vandrovcova, et al.
Nature
|
October 5, 2022
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes
Wei Wei, Katherine R Schon, Greg Elgar, et al.
Nucleic Acids Research
|
August 24, 2021
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases
Thiloka E Ratnaike, Daniel Greene, Wei Wei, et al.
Molecular Syndromology
|
February 6, 2025
A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability
Beria Sönmez, Mehmet Kocabey, Ayşe İpek Polat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 5, 2024
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Tuya Pal, Katherine R Schon, Esteban Astiazaran-Symonds, et al.
BMJ (Clinical Research Ed.)
|
November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Katherine R Schon, Rita Horvath, Wei Wei, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Lindsay A Wilson, William L Macken, Luke D Perry, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Practical Neurology
|
October 17, 2022
Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics
Katherine R Schon, Patrick F Chinnery
Trends in Genetics : TIG
|
July 18, 2020
Mitochondrial Diseases: A Diagnostic Revolution
Katherine R Schon, Thiloka Ratnaike, Jelle van den Ameele, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology
|
July 13, 2023
Multisystem pathology in McLeod syndrome
Katherine R Schon, Dominic G O'Donovan, Mayen Briggs, et al.
Annals of Clinical and Translational Neurology
|
August 2, 2024
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Fei Gao, Katherine R Schon, Jana Vandrovcova, et al.
Nature
|
October 5, 2022
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes
Wei Wei, Katherine R Schon, Greg Elgar, et al.
Nucleic Acids Research
|
August 24, 2021
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases
Thiloka E Ratnaike, Daniel Greene, Wei Wei, et al.
Molecular Syndromology
|
February 6, 2025
A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability
Beria Sönmez, Mehmet Kocabey, Ayşe İpek Polat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 5, 2024
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Tuya Pal, Katherine R Schon, Esteban Astiazaran-Symonds, et al.
BMJ (Clinical Research Ed.)
|
November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Katherine R Schon, Rita Horvath, Wei Wei, et al.
Brain : a Journal of Neurology
|
July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity
Lindsay A Wilson, William L Macken, Luke D Perry, et al.
Page
of 1