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Human Molecular Genetics
|
January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia
Minal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Nature Genetics
|
November 5, 1999
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
L C Papadopoulou, C M Sue, M M Davidson, et al.
The Lancet Regional Health. Western Pacific
|
April 13, 2026
Insights from a cross-sectional population-based study of 10,929 Australians living with Parkinson's disease: risk factors, comorbidities, and sex differences
Fangyuan Cao, Kerrie McAloney, Natalia S Ogonowski, et al.
Internal Medicine Journal
|
September 10, 2021
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations
Carolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic, et al.
Plos One
|
May 13, 2009
Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration
John Paul SanGiovanni, Dan E Arking, Sudha K Iyengar, et al.
Frontiers in Oncology
|
March 12, 2019
Clinical, Diagnostic, and Treatment Characteristics of <i>SDHA</i>-Related Metastatic Pheochromocytoma and Paraganglioma
Abhishek Jha, Kristine de Luna, Charlene Ann Balili, et al.
The New England Journal of Medicine
|
September 21, 2022
Glycemia Reduction in Type 2 Diabetes - Microvascular and Cardiovascular Outcomes
, David M Nathan, John M Lachin, et al.
Human Mutation
|
January 22, 2008
Myoclonus-dystonia: significance of large SGCE deletions
A Grünewald, A Djarmati, K Lohmann-Hedrich, et al.
Toxicologic Pathology
|
December 18, 2020
Adversity Considerations for Thyroid Follicular Cell Hypertrophy and Hyperplasia in Nonclinical Toxicity Studies: Results From the 6th ESTP International Expert Workshop
Maike Huisinga, Lise Bertrand, Ronnie Chamanza, et al.
Movement Disorders Clinical Practice
|
February 24, 2026
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
Ce Kang, Rajasumi Rajalingam, Zachary Walls, et al.
Page
of 42
Search research articles
Search
Showing results (381-390 of 415) with videos related to
Sort By:
Page
of 42
Human Molecular Genetics
|
January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia
Minal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Nature Genetics
|
November 5, 1999
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
L C Papadopoulou, C M Sue, M M Davidson, et al.
The Lancet Regional Health. Western Pacific
|
April 13, 2026
Insights from a cross-sectional population-based study of 10,929 Australians living with Parkinson's disease: risk factors, comorbidities, and sex differences
Fangyuan Cao, Kerrie McAloney, Natalia S Ogonowski, et al.
Internal Medicine Journal
|
September 10, 2021
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations
Carolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic, et al.
Plos One
|
May 13, 2009
Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration
John Paul SanGiovanni, Dan E Arking, Sudha K Iyengar, et al.
Frontiers in Oncology
|
March 12, 2019
Clinical, Diagnostic, and Treatment Characteristics of <i>SDHA</i>-Related Metastatic Pheochromocytoma and Paraganglioma
Abhishek Jha, Kristine de Luna, Charlene Ann Balili, et al.
The New England Journal of Medicine
|
September 21, 2022
Glycemia Reduction in Type 2 Diabetes - Microvascular and Cardiovascular Outcomes
, David M Nathan, John M Lachin, et al.
Human Mutation
|
January 22, 2008
Myoclonus-dystonia: significance of large SGCE deletions
A Grünewald, A Djarmati, K Lohmann-Hedrich, et al.
Toxicologic Pathology
|
December 18, 2020
Adversity Considerations for Thyroid Follicular Cell Hypertrophy and Hyperplasia in Nonclinical Toxicity Studies: Results From the 6th ESTP International Expert Workshop
Maike Huisinga, Lise Bertrand, Ronnie Chamanza, et al.
Movement Disorders Clinical Practice
|
February 24, 2026
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
Ce Kang, Rajasumi Rajalingam, Zachary Walls, et al.
Page
of 42