Sabine S. Schoneborn-Rudnik

Innsbruck, Austria

Last Updated: 09/26/2026

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Found 87 publications

Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the GfH Genetic Counselor Commission.

Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the GfH Genetic Counselor Commission.

Journal: Journal of genetic counseling

Published: January 20, 2026

Left ventricular global longitudinal strain and diagnostic yield of genetic testing in hypertrophic cardiomyopathy in a multicenter registry analysis.

Left ventricular global longitudinal strain and diagnostic yield of genetic testing in hypertrophic cardiomyopathy in a multicenter registry analysis.

Journal: Scientific reports

Published: March 16, 2025

Experience on genetic testing for primary dilated cardiomyopathy in a single Austrian genetic center and the role of myocardial inflammation.

Experience on genetic testing for primary dilated cardiomyopathy in a single Austrian genetic center and the role of myocardial inflammation.

Journal: Cardiology

Published: March 04, 2025

Early Pregnancy Loss in the 1st Trimester: Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry No. 015/076; August 2024).

Early Pregnancy Loss in the 1st Trimester: Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry No. 015/076; August 2024).

Journal: Geburtshilfe und Frauenheilkunde

Published: November 08, 2024

Verleihung der GfH-Ehrenmitgliedschaft 2024 an Prof. Dr. med. Klaus Zerres.

Verleihung der GfH-Ehrenmitgliedschaft 2024 an Prof. Dr. med. Klaus Zerres.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: September 11, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

Workshop report: Clinical training and integration of genetic counselors into interprofessional teams in the German-speaking countries.

Workshop report: Clinical training and integration of genetic counselors into interprofessional teams in the German-speaking countries.

Journal: Genetics in medicine open

Published: January 30, 2024

The current state of the genetic counselor profession in the German-speaking countries.

The current state of the genetic counselor profession in the German-speaking countries.

Journal: Genetics in medicine open

Published: January 30, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: medRxiv : the preprint server for health sciences

Published: July 28, 2023

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Journal: Human molecular genetics

Published: May 12, 2023

Only one beer can be mortal: a case report of two sisters with cardiac arrest due to a homozygous mutation in PPA2 gene.

Only one beer can be mortal: a case report of two sisters with cardiac arrest due to a homozygous mutation in PPA2 gene.

Journal: European journal of pediatrics

Published: March 31, 2023

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Journal: Brain : a journal of neurology

Published: January 27, 2023

Showing 1-12 of 87

Last Updated: 09/26/2026