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Publications by D M Knutzen

Joubert Syndrome: A Model for Untangling Recessive Disorders With Extreme Genetic Heterogeneity

Journal of Medical Genetics

English

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Mice With a Conditional Deletion of Talpid3 ( KIAA0586 ) – A Model for Joubert Syndrome

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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

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A New Mouse Model for the Neurodevelopmental Ciliopathy Joubert Syndrome

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NPHP1 Gene Deletion Is a Rare Cause of Joubert Syndrome Related Disorders

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Joubert Syndrome: A Rare Cause for Developmental Delay

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The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders

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Genetic Study of a New X-Linked Recessive Immunodeficiency Syndrome.

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