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David R Thorburn

Showing results (141-150 of 166) with videos related to

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International Journal of Molecular Sciences|January 21, 2022
Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionNicole J Van Bergen, Daniella H Hock, Lucy Spencer, et al.
Science Advances|April 4, 2025
Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomicsTasneem Qaqorh, Yusuke Takahashi, Kohei Sameshima, et al.
Human Genetics|May 6, 2023
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiencyShabnam Bakhshalizadeh, Daniella H Hock, Nicole A Siddall, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
Annals of Clinical and Translational Neurology|March 27, 2019
Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosisHannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, et al.
American Journal of Human Genetics|July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte L Alston, Alison G Compton, Luke E Formosa, et al.
American Journal of Human Genetics|August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
Journal of Inherited Metabolic Disease|July 13, 2026
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin TreatmentNajmesadat Seyedkatouli, Liana N Semcesen, Lucia Gallucci, et al.
Brain : a Journal of Neurology|December 22, 2018
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, et al.
Pageof 17

Showing results (141-150 of 166) with videos related to

Sort By:
Pageof 17
International Journal of Molecular Sciences|January 21, 2022
Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionNicole J Van Bergen, Daniella H Hock, Lucy Spencer, et al.
Science Advances|April 4, 2025
Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomicsTasneem Qaqorh, Yusuke Takahashi, Kohei Sameshima, et al.
Human Genetics|May 6, 2023
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiencyShabnam Bakhshalizadeh, Daniella H Hock, Nicole A Siddall, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
Annals of Clinical and Translational Neurology|March 27, 2019
Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosisHannah Hayhurst, Irenaeus F M de Coo, Dorota Piekutowska-Abramczuk, et al.
American Journal of Human Genetics|July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte L Alston, Alison G Compton, Luke E Formosa, et al.
American Journal of Human Genetics|August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
Journal of Inherited Metabolic Disease|July 13, 2026
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin TreatmentNajmesadat Seyedkatouli, Liana N Semcesen, Lucia Gallucci, et al.
Brain : a Journal of Neurology|December 22, 2018
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, et al.
Pageof 17