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Publications by Gudrun Nürnberg

The Nexin-Dynein Regulatory Complex Subunit DRC1 Is Essential for Motile Cilia Function in Algae and Humans

Nature Genetics

English

CEP152 Is a Genome Maintenance Protein Disrupted in Seckel Syndrome

Nature Genetics

English

Dysfunction of the MDM2/p53 Axis Is Linked to Premature Aging

Journal of Clinical Investigation

English

A C-Terminal Nonsense Mutation Links PTPRQ With Autosomal-Dominant Hearing Loss, DFNA73

Genetics in Medicine

English

Frank-Ter Haar Syndrome Associated With Sagittal Craniosynostosis and Raised Intracranial Pressure

BMC Medical Genetics

English

Erratum: Mutations in Different Components of FGF Signaling in LADD Syndrome

Nature Genetics

English

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

American Journal of Human Genetics

English

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

American Journal of Human Genetics

English

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

American Journal of Human Genetics

English

A Systematic Approach to Mapping Recessive Disease Genes in Individuals From Outbred Populations

Molecular Biology

Cancer Research

English