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1. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

2. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

3. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

5. Supplementary informations and figures from Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

6. Neuromuscular Features in XL-MTM Carriers: A Cross-Sectional Study in an Unselected Cohort

8. Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

10. Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers

13. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

14. Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

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