Nima Rezaei Asghar Aghamohammadi Luigi D. Notarangelo Editors Definition, Diagnosis, and Management Second Edition
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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-
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Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
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Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | PNAS
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