List of articles ("Exportable")
Migration of ZORA to new software DSpace
On 08 September 2025, ZORA will be migrated to the new software.
Therefore, it is currently not possible to enter documents into ZORA.
The missing publications are expected to be available again from 10 September 2025.
You can download these publications in the following formats:
- CSV
- EndNote
- BibTex
- XML
Select the desired format from the "format" drop-down menu and then click on the "download" button
ZORA Publication List
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Publications
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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature European Journal of Human Genetics:Epub ahead of print.
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The primary cilium gene CPLANE1 is required for peripheral nervous system development Developmental Biology, 519:106-121.
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Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP Neurogenetics, 26(1):32.
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Towards a Prenatal Diagnostic Pipeline for Variants of Unknown Significance in Noonan Syndrome Genes 2025, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
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Pediatric Acute B‐Lymphoblastic Leukemia Presenting as Hypereosinophilia With Lung Involvement and Elevated Immunoglobulin E Levels Pediatric Blood & Cancer, 72(2):e31461.
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Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48 American Journal of Medical Genetics. Part A, 197(1):e63842.
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Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability Genetics in Medicine, 27(1):101253.
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Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Annals of Neurology, 97(1):76-89.