7 results on '"Arts, Heleen H"'
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2. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
3. Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients
4. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
5. Scrutinizing ciliopathies by unraveling ciliary interaction networks
6. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
7. Focus on Molecules: RPGRIP1
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