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Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein
Download from doi.orgPrimary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Download from europepmc.orgTwo male sibs with severe micrognathia and a missense variant in MED12
UploadNational Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences
Download from www.researchgate.netThe Cardiac Phenotype in Patients With a CHD7 Mutation
Download from circgenetics.ahajournals.orgComprehensive Clinical and Molecular Analysis of 12 Families With Type 1 Recessive Cutis Laxa
Download from www.ncbi.nlm.nih.govCauses of hearing impairment in the Norwegian paediatric cochlear implant program
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