Anita Rauch

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Articles (15)

Collaborators (9)

Christiane Zweier

Ruxandra Bachmann-Gagescu

SNF-Assistant Professor

University of Zurich

Heinrich Sticht

Friedrich-Alexander Universität Erlangen-Nürnberg

Gijs Santen

Department head

Leiden University Medical Center

Ivan Ivanovski

University of Zurich

Reza Asadollahi

Senior Lecturer in Genetics

University of Greenwich

UNITED KINGDOM

Hubert Rehrauer

Jeremy Prokop

Assistant Professor

Michigan State University

UNITED STATES

Anselm Horn

Friedrich-Alexander Universität Erlangen-Nürnberg

Anita Rauch

Research Interests

Explore related searches

Contact this professor

Articles (15)

Collaborators (9)

Christiane Zweier

Ruxandra Bachmann-Gagescu

Heinrich Sticht

Gijs Santen

Ivan Ivanovski

Reza Asadollahi

Hubert Rehrauer

Jeremy Prokop

Anselm Horn

How do I reach out?

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Anita Rauch

Research Interests

Explore related searches

Contact this professor

Articles (15)

Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48

<i>SwissGenVar</i>: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor

Loss of tissue-type plasminogen activator causes multiple developmental anomalies

Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.

A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.

A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al Response

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome

Collaborators (9)

Christiane Zweier

Ruxandra Bachmann-Gagescu

Heinrich Sticht

Gijs Santen

Ivan Ivanovski

Reza Asadollahi

Hubert Rehrauer

Jeremy Prokop

Anselm Horn

How do I reach out?

Meet Kite AI