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David Dimmock

Showing results (81-90 of 101) with videos related to

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Nature Reviews. Drug Discovery|November 4, 2024
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmapAnneliene H Jonker, Elena-Alexandra Tataru, Holm Graessner, et al.
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
NPJ Genomic Medicine|October 28, 2020
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseChristian R Marshall, Shimul Chowdhury, Ryan J Taft, et al.
Journal of Inherited Metabolic Disease|March 12, 2020
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh diseaseMarisa W Friederich, Abdallah F Elias, Alice Kuster, et al.
Blood|November 8, 2012
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomesRebecca A Marsh, Kanchan Rao, Prakash Satwani, et al.
Human Mutation|January 13, 2022
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymesJennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Cell|August 14, 2018
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical SignaturesJoo Sang Lee, Lital Adler, Hiren Karathia, et al.
American Journal of Human Genetics|October 1, 2019
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsStephen F Kingsmore, Julie A Cakici, Michelle M Clark, et al.
Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
Pageof 11

Showing results (81-90 of 101) with videos related to

Sort By:
Pageof 11
Nature Reviews. Drug Discovery|November 4, 2024
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmapAnneliene H Jonker, Elena-Alexandra Tataru, Holm Graessner, et al.
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
NPJ Genomic Medicine|October 28, 2020
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseChristian R Marshall, Shimul Chowdhury, Ryan J Taft, et al.
Journal of Inherited Metabolic Disease|March 12, 2020
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh diseaseMarisa W Friederich, Abdallah F Elias, Alice Kuster, et al.
Blood|November 8, 2012
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomesRebecca A Marsh, Kanchan Rao, Prakash Satwani, et al.
Human Mutation|January 13, 2022
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymesJennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Cell|August 14, 2018
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical SignaturesJoo Sang Lee, Lital Adler, Hiren Karathia, et al.
American Journal of Human Genetics|October 1, 2019
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsStephen F Kingsmore, Julie A Cakici, Michelle M Clark, et al.
Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
Pageof 11