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American Journal of Human Genetics
|
April 7, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
Cell
|
November 20, 2025
Inhibition of heme biosynthesis triggers cuproptosis in acute myeloid leukemia
Alexander C Lewis, Emily Gruber, Rheana Franich, et al.
Bioscience
|
June 10, 2017
The Arctic in the Twenty-First Century: Changing Biogeochemical Linkages across a Paraglacial Landscape of Greenland
N John Anderson, Jasmine E Saros, Joanna E Bullard, et al.
Cell
|
May 12, 2023
Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome
Michael D Healy, Kerrie E McNally, Rebeka Butkovič, et al.
American Journal of Human Genetics
|
August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
Nature Communications
|
February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Blood
|
April 7, 2021
Intact TP-53 function is essential for sustaining durable responses to BH3-mimetic drugs in leukemias
Rachel Thijssen, Sarah T Diepstraten, Donia Moujalled, et al.
Genome Medicine
|
May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Daniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
Brain : a Journal of Neurology
|
November 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
Lein N H Dofash, Lee B Miles, Yoshihiko Saito, et al.
Nature Medicine
|
June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
Page
of 18
Search research articles
Search
Showing results (161-170 of 176) with videos related to
Sort By:
Page
of 18
American Journal of Human Genetics
|
April 7, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
Cell
|
November 20, 2025
Inhibition of heme biosynthesis triggers cuproptosis in acute myeloid leukemia
Alexander C Lewis, Emily Gruber, Rheana Franich, et al.
Bioscience
|
June 10, 2017
The Arctic in the Twenty-First Century: Changing Biogeochemical Linkages across a Paraglacial Landscape of Greenland
N John Anderson, Jasmine E Saros, Joanna E Bullard, et al.
Cell
|
May 12, 2023
Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome
Michael D Healy, Kerrie E McNally, Rebeka Butkovič, et al.
American Journal of Human Genetics
|
August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
Nature Communications
|
February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Blood
|
April 7, 2021
Intact TP-53 function is essential for sustaining durable responses to BH3-mimetic drugs in leukemias
Rachel Thijssen, Sarah T Diepstraten, Donia Moujalled, et al.
Genome Medicine
|
May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Daniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
Brain : a Journal of Neurology
|
November 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
Lein N H Dofash, Lee B Miles, Yoshihiko Saito, et al.
Nature Medicine
|
June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
Page
of 18