Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
2014 · European Journal of Human Genetics · 20 citations
https://doi.org/10.1038/ejhg.2014.264
J
Jürgen Neesen
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Jürgen Neesen is an academic researcher from Medical University of Vienna. The author has contributed to research in topics: Prenatal Screening and Diagnostics & Genomic variations and chromosomal abnormalities & Reproductive Biology and Fertility. The author has an h-index of 29, co-authored 69 publications.
ORCID: 0000-0002-3635-2097Papers by this author
worksSingleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
2022 · European Journal of Human Genetics · 12 citations
https://doi.org/10.1038/s41431-021-01012-7
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria
2024 · European Archives of Oto-Rhino-Laryngology · 3 citations
https://doi.org/10.1007/s00405-024-08492-5
A human haploid gene trap collection to study lncRNAs with unusual RNA biology
2015 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.1623213.v1
A human haploid gene trap collection to study lncRNAs with unusual RNA biology
2015 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.1623213
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