1. Henry,Houlden 英国 University College London Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing..
2. Fowzan S,Alkuraya 沙特阿拉伯 King Faisal Specialist Hospital & Research Center Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing..
3. Suzanne M,Leal 美国 Baylor College Medicine Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing..
4. Taylor, Robert W. 英国 University of Newcastle upon Tyne, Faculty of Medical Sciences Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing..
5. David R,Thorburn 澳大利亚 University of Melbourne Review: Utility of mass spectrometry in rare disease research and diagnosis
6. Christodoulou, John 澳大利亚 University of Melbourne Review: Utility of mass spectrometry in rare disease research and diagnosis
7. Shamima,Rahman 英国 University College London Endocrine Dysfunction in Primary Mitochondrial Diseases
8. Jean-Louis,Gueant 法国 University of Lorraine Population-level impact of COVID-19 on thyroid function tests: Results from a repeated cross-section..
9. Henry,Houlden 英国 University College London Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with alter..
10. Friedman, Thomas B. 美国 National Institute DEAFNESS & OTHER Communication DISORDERS Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with alter..
11. Taylor, Robert W. 英国 University of Newcastle upon Tyne, Faculty of Medical Sciences Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with alter..
12. David R,Thorburn 澳大利亚 University of Melbourne A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diag..
13. Christodoulou, John 澳大利亚 University of Melbourne A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diag..
14. Luca,Persani 意大利 University of Milan Primary ovarian insufficiency: update on clinical and genetic findings
15. Andrew H,Sinclair 澳大利亚 University of Melbourne Premature ovarian insufficiency
16. Taylor, Robert W. 英国 University of Newcastle upon Tyne, Faculty of Medical Sciences Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly ..
17. DeCensi, Andrea 意大利 EO Ospedale GALLIERA Novel Treatments for Obesity: Implications for Cancer Prevention and Treatment
18. Maria,Fleseriu 美国 Oregon Health and Science University Pituitary and SARS CoV-2: An unremitting conundrum