News

Das Institut für Medizinische Genetik der Universität Zürich hat während der Festtage an bestimmten Tagen und zu bestimmten Uhrzeiten geöffnet. ...

This study details a novel syndromic form of autosomal recessive intellectual disability resulting from recessive variants in GTF3C3, encoding ...

geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U.S.A

Pediatric Acute B-Lymphoblastic Leukemia Presenting as Hypereosinophilia With Lung Involvement and Elevated Immunoglobulin E Levels.

Hydrocephalus and Dandy-Walker malformation are among the most common congenital brain anomalies.

Ab 2. November finden Sie das Kinderspital Zürich an neuer Adresse.

Künftig wird die hochstehende medizinische und pflegerische ...

Joubert Syndrome gene dysfunction in zebrafish leads to abnormal brain cilia, altered transcription of neuron-associated genes and abnormal ...

De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), ...

While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched ...

The contribution of splicing variants to molecular diagnostics of inherited diseases is reported to be less than 10%. 

Ein Gen namens ZNRF3, das bei Krebs eine Rolle spielt, bringt auch das Gehirn durcheinander. Ist eine der beiden Gen-Kopien defekt, wird das ...

Alterations in the X-linked recessive DMD gene cause dystrophinopathies with a broad clinical spectrum most commonly ranging ...

Zinc and RING finger 3 (ZNRF3) is a negative-feedback regulator of Wnt/β-catenin signaling, which plays an important role in human brain ...

Background
Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of ...

To present a case series of novel CHD2 variants in patients presenting with genetic epileptic and developmental encephalopathy.

To support clinical decision making, all five Swiss academic institutions for Medical Genetics joined forces with the Swiss Institute of ...

The purpose of this study was to assess the added diagnostic value of whole genome sequencing (WGS) for patients with inherited retinal ...

Ruxandra Bachmann-Gagescu wurde Oktober 2023 als ausserordentliche Doppel-Professorin für Entwicklungsgenetik am Institut für Molekularbiologie ...

Background

We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), ...

Deubiquitination is critical for the proper functioning of numerous biological pathways such as DNA repair, cell cycle progression, ...