Peter Nürnberg

Publishing 2016–2019

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5
Articles
1,779
Reads on Journament
84
Co-authors
4
Journals

This page collects the articles indexed under the name Peter Nürnberg. Profiles are grouped by name, so it can include work by someone else who shares it until the author claims the profile and confirms which papers are theirs.

Publications 5

  1. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
    Journal of human genetics 2019 390 reads
  2. Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
    Journal of human genetics 2019 494 reads
  3. A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
    human mutation 2019 341 reads University of Cologne
  4. recurrent and prolonged infections in a child with a homozygous ifih1 nonsense mutation
  5. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

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Institutions on these papers

  • University of Cologne · DE 1

From OpenAlex, for papers with a DOI.

Frequent co-authors

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