Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Peter Nürnberg

Mutations in DONSON Disrupt Replication Fork Stability and Cause Microcephalic Dwarfism

Nature Genetics

English

Mutations in ABCD4 Cause a New Inborn Error of Vitamin B12 Metabolism

Nature Genetics

English

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

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

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

Journal of Clinical Investigation

English

The Mutational Landscape of Burkitt-Like Lymphoma With 11q Aberration Is Distinct From That of Burkitt Lymphoma

English

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

Genetics in Medicine

English