Found: 20
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Extra-ocular muscle MRI in genetically-defined mitochondrial disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A Quality Improvement Initiative to Reduce Surgical Site Infections in Patients Undergoing Delayed Sternal Closure After Pediatric Cardiac Surgery.
- Published in:
- Pediatric Cardiology, 2020, v. 41, n. 7, p. 1402, doi. 10.1007/s00246-020-02396-x
- By:
- Publication type:
- Article
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mitochondrial Strokes: Diagnostic Challenges and Chameleons.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1643, doi. 10.3390/genes12101643
- By:
- Publication type:
- Article
870: DOES MEASURMENT OF OXYGEN SATURATION IMPROVE THE DIAGNOSTIC DETECTION OF CONGENITAL HEART DISEASE DURING POPULATION SCREENING?
- Published in:
- Cardiovascular Journal of Africa, 2013, v. 24, n. 1, p. 195
- By:
- Publication type:
- Article
553: DOES THE 12-LEAD ELECTROCARDIOGRAM IMPROVE DIAGNOSTIC DETECTION OF ATRIAL SEPTAL DEFECTS DURING POPULATION-BASED SCREENING?
- Published in:
- Cardiovascular Journal of Africa, 2013, v. 24, n. 1, p. 174
- By:
- Publication type:
- Article
189: THE DEVELOPMENT OF PAEDIATRIC CARDIAC SURGICAL NURSING IN MONGOLIA.
- Published in:
- Cardiovascular Journal of Africa, 2013, v. 24, n. 1, p. 101
- By:
- Publication type:
- Article
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32908-7
- By:
- Publication type:
- Article
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 445, doi. 10.1007/s10545-014-9778-4
- By:
- Publication type:
- Article
Reviews.
- Published in:
- 1997
- By:
- Publication type:
- Book Review
Reviews.
- Published in:
- 1996
- By:
- Publication type:
- Book Review
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 10, p. 2982, doi. 10.1093/brain/awr129
- By:
- Publication type:
- Article
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 2, p. 411, doi. 10.1093/brain/awh712
- By:
- Publication type:
- Article
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991
- By:
- Publication type:
- Article
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991
- By:
- Publication type:
- Article
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 16, p. 2711, doi. 10.1093/hmg/ddz093
- By:
- Publication type:
- Article
EB52 A System's Approach to Improving Preoperative Antibiotic Timing in Congenital Heart Surgery.
- Published in:
- 2014
- By:
- Publication type:
- Abstract
COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1556, doi. 10.1001/jamaneurol.2013.3242
- By:
- Publication type:
- Article
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145500
- By:
- Publication type:
- Article