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Plos Biology
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June 24, 2025
Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editors
Indi P Joore, Sawsan Shehata, Irena Muffels, et al.
Nature Communications
|
October 24, 2020
Prime editing for functional repair in patient-derived disease models
Imre F Schene, Indi P Joore, Rurika Oka, et al.
Journal of Medical Genetics
|
July 24, 2023
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
Loek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, et al.
Nucleic Acids Research
|
December 10, 2024
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation
Gautam Kok, Imre F Schene, Eveline F Ilcken, et al.
International Journal of Neonatal Screening
|
January 21, 2026
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral
Nils W F Meijer, Hidde H Huidekoper, Klaas Koop, et al.
Genome Medicine
|
February 7, 2025
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance
Irena Josephina Johanna Muffels, Hans R Waterham, Giuseppina D'Alessandro, et al.
Human Mutation
|
September 27, 2021
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
Jean-Marie Ravel, Natacha Dreumont, Pauline Mosca, et al.
Journal of Inherited Metabolic Disease
|
October 21, 2021
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
Vivian Lehmann, Imre F Schene, Arif I Ardisasmita, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 8, 2018
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Sabine A Fuchs, Imre F Schene, Gautam Kok, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2020
Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes
Sabine A Fuchs, Imre F Schene, Gautam Kok, et al.
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of 7
Search research articles
Search
Showing results (41-50 of 64) with videos related to
Sort By:
Page
of 7
Plos Biology
|
June 24, 2025
Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editors
Indi P Joore, Sawsan Shehata, Irena Muffels, et al.
Nature Communications
|
October 24, 2020
Prime editing for functional repair in patient-derived disease models
Imre F Schene, Indi P Joore, Rurika Oka, et al.
Journal of Medical Genetics
|
July 24, 2023
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
Loek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, et al.
Nucleic Acids Research
|
December 10, 2024
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation
Gautam Kok, Imre F Schene, Eveline F Ilcken, et al.
International Journal of Neonatal Screening
|
January 21, 2026
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral
Nils W F Meijer, Hidde H Huidekoper, Klaas Koop, et al.
Genome Medicine
|
February 7, 2025
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance
Irena Josephina Johanna Muffels, Hans R Waterham, Giuseppina D'Alessandro, et al.
Human Mutation
|
September 27, 2021
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
Jean-Marie Ravel, Natacha Dreumont, Pauline Mosca, et al.
Journal of Inherited Metabolic Disease
|
October 21, 2021
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
Vivian Lehmann, Imre F Schene, Arif I Ardisasmita, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 8, 2018
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Sabine A Fuchs, Imre F Schene, Gautam Kok, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2020
Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes
Sabine A Fuchs, Imre F Schene, Gautam Kok, et al.
Page
of 7