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Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients
UploadFurther delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases
UploadProgressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases: MEGDHEL Syndrome
Download from doi.orgMolecular and clinical spectra of FBXL4 deficiency
UploadCharacterizing the morbid genome of ciliopathies
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