5 results on '"Oud, Machteld M"'
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2. Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
3. Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
4. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
5. The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis
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