More about Easter Special Opening Times 15 Apr 2025 Easter Special Opening Times The institute is closed from Maundy Thursday, 17th of April, 16:00, until Easter Monday, 21st of April. ... More about Easter Special Opening Times
More about Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols 11 Apr 2025 Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols Ciliopathies are a group of human Mendelian disorders caused by dysfunction of primary cilia, small quasi-ubiquitous sensory organelles. ... More about Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols
More about Opening times during SSMG Annual Meeting 4 Apr 2025 Opening times during SSMG Annual Meeting Our Genetic Consultations will be closed on Thursday 10th and Friday 11th of April due to the SGMG Annual Meeting. Our Genetics Diagnostic ... More about Opening times during SSMG Annual Meeting
More about Transfer of the Institute of Medical Molecular Genetics 1 Apr 2025 Transfer of the Institute of Medical Molecular Genetics With the retirement of Professor Wolfgang Berger on January 31, 2025, the Institute of Medical Molecular Genetics has been dissolved as such, ... More about Transfer of the Institute of Medical Molecular Genetics
More about ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature 5 Mar 2025 ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ... More about ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
More about Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments 1 Mar 2025 Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments Of the around 7,000 known rare diseases worldwide, disease-modifying treatments are available for fewer than 5%, leaving millions of ... More about Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
More about Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP 24 Feb 2025 Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP ADNP-Related Disorder [previously known as Helsmoortel-Van der Aa syndrome (HVDAS)] is a rare genetic condition resulting from mutations in the ... More about Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP
More about 19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree 27 Jan 2025 19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree Nineteen-year follow-up after initial examination on patients with Axenfeld-Rieger anomaly or syndrome (ARAS) and coexisting Fuchsʼ endothelial ... More about 19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree
More about Cerebral inflammation in a patient with Kabuki syndrome 19 Dec 2024 Cerebral inflammation in a patient with Kabuki syndrome The in-depth characterization of patients with common variable immunodeficiency (CVID) is a recent advancement, revealing a complex genetic ... More about Cerebral inflammation in a patient with Kabuki syndrome
More about The primary cilium gene CPLANE1 is required for peripheral nervous system development 16 Dec 2024 The primary cilium gene CPLANE1 is required for peripheral nervous system development Ciliopathies are a group of neurodevelopmental disorders characterized by the dysfunction of the primary cilium. More about The primary cilium gene CPLANE1 is required for peripheral nervous system development
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