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The primary cilium gene CPLANE1 is required for peripheral nervous system development
Further delineation of the SCAF4-associated neurodevelopmental disorder
Festive Season 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
Loss of tissue-type plasminogen activator causes multiple developmental anomalies.
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
SwissGenVar
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
Entwickelungsgenetik
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
DPF2-related Coffin-Siris syndrome type 7 in two generations
Systematic identification of structure-specific protein–protein interactions
Umstellung des internen Netzwerks am 1. und 2. Mai
Olfactory Receptor OR2K2 Expression in Human Choroid Plexus
Easter Closing
E-mail Outage
SNUPN deficiency causes a recessive muscular dystrophy
Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
Joubert Syndrome
Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies
Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry
Identification of the DNA methylation signature of Mowat-Wilson syndrome
RORB-Related Disorder
PSMC5
Unveiling DNA methylation in Alzheimer’s disease..
FBXW7
2023
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Publikation von 01.12.2023
Swiss-Korean Life Science Symposium
Institute closed at 5 October 2023
A computational framework
endometriosis
Now the man is also decoded
KBG Syndrome
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2022
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Genetic Testing Before Pregnancy
We congratulate Dr. Reza Asadollahi
We congratulate Dr. Dr. Fabienne Meier-Abt
2021
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Three new research priorities
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SSMG Meeting (Thursday)
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SGMG Annual Meeting
SGMG Annual Meeting
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2023
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Facharztprüfung
Tag der Labormedizin 2023
On 05/10/2023 our company outing will take place and the institute will be closed.
Amyloidose – Past, Present and Visions for the Future
Lecture 'Current therapeutic options for cystic fibrosis'
Lecture
Molecular Genetic Diagnostics in Cardiomyopathies
Lecture Interfaces in paediatric (highly) specialized care of children and adolescents with chronic diseases and disabilities
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Genetic Testing of Inherited Retinal Diseases
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List of articles ("Exportable")
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ZORA Note on the specification of authors
Text file with all articles
Text File - with all articles
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ZORA - Note on Authors
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Hierarchical Genomic Analysis of Susceptibility to Schizophrenia in Sudanese multi-case families
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments
Pythia: Non-random DNA repair allows predictable CRISPR/Cas9 integration and gene editing.
Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Paediatric Personalized Research Network Switzerland (SwissPedHealth)
The Primary Cilium Gene Cplane1 is Required for Peripheral Nervous System Development
Pediatric acute B-lymphoblastic leukemia presenting as hypereosinophilia with lung involvement and elevated IgE levels; a case report
Latest Articles
ZORA - Note on Authors
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