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Frontiers in Pharmacology
|
April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease
Jing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Journal of Medical Genetics
|
November 22, 2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Paul Kruszka, Dong Li, Margaret H Harr, et al.
Human Molecular Genetics
|
June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
Emanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
Biosecurity and Bioterrorism : Biodefense Strategy, Practice, and Science
|
March 13, 2013
Guidelines for Biosafety Training Programs for Workers Assigned to BSL-3 Research Laboratories
Lesley C Homer, T Scott Alderman, Heather Ann Blair, et al.
Academic Radiology
|
September 15, 2023
Together We Go Farther: Improving Access to Cancer Screening Through a Multidisciplinary, One-Stop-Shop Approach
Sara P Ginzberg, Christine E Edmonds, Farouk Dako, et al.
Journal of Medical Genetics
|
January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisis
Sumit Parikh, Amel Karaa, Amy Goldstein, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2016
International Paediatric Mitochondrial Disease Scale
Saskia Koene, Jan C M Hendriks, Ilse Dirks, et al.
The Veterinary Record
|
April 19, 2021
Test and vaccinate or remove: Methodology and preliminary results from a badger intervention research project
Fraser D Menzies, Carl M McCormick, Maria J H O'Hagan, et al.
Assay and Drug Development Technologies
|
June 19, 2013
Development of a high-throughput screen to detect inhibitors of TRPS1 sumoylation
Martin Brandt, Lawrence M Szewczuk, Hong Zhang, et al.
Science Advances
|
April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Robert Wang, Feng Wang, Nicole DeBruyne, et al.
Page
of 72
Search research articles
Search
Showing results (691-700 of 714) with videos related to
Sort By:
Page
of 72
Frontiers in Pharmacology
|
April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease
Jing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Journal of Medical Genetics
|
November 22, 2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Paul Kruszka, Dong Li, Margaret H Harr, et al.
Human Molecular Genetics
|
June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
Emanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
Biosecurity and Bioterrorism : Biodefense Strategy, Practice, and Science
|
March 13, 2013
Guidelines for Biosafety Training Programs for Workers Assigned to BSL-3 Research Laboratories
Lesley C Homer, T Scott Alderman, Heather Ann Blair, et al.
Academic Radiology
|
September 15, 2023
Together We Go Farther: Improving Access to Cancer Screening Through a Multidisciplinary, One-Stop-Shop Approach
Sara P Ginzberg, Christine E Edmonds, Farouk Dako, et al.
Journal of Medical Genetics
|
January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisis
Sumit Parikh, Amel Karaa, Amy Goldstein, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2016
International Paediatric Mitochondrial Disease Scale
Saskia Koene, Jan C M Hendriks, Ilse Dirks, et al.
The Veterinary Record
|
April 19, 2021
Test and vaccinate or remove: Methodology and preliminary results from a badger intervention research project
Fraser D Menzies, Carl M McCormick, Maria J H O'Hagan, et al.
Assay and Drug Development Technologies
|
June 19, 2013
Development of a high-throughput screen to detect inhibitors of TRPS1 sumoylation
Martin Brandt, Lawrence M Szewczuk, Hong Zhang, et al.
Science Advances
|
April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Robert Wang, Feng Wang, Nicole DeBruyne, et al.
Page
of 72