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Your search keyword '"Oud, Machteld M"' showing total 7 results

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1. Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

2. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

3. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

4. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

5. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

6. Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

7. Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

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