Corinne Gemperle

Zurich, ZH, Switzerland

Last Updated: 09/26/2026

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Found 8 publications

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

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.

Journal: Frontiers in immunology

Published: January 24, 2022

Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].

Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].

Journal: Molecular genetics and metabolism

Published: July 10, 2021

Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders.

Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders.

Journal: Biochimie

Published: August 28, 2020

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.

Journal: JIMD reports

Published: July 08, 2019

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Journal: Molecular genetics and metabolism

Published: January 07, 2019

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.

Journal: Human mutation

Published: February 08, 2018

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

Journal: Journal of medical genetics

Published: April 01, 2016

Showing 1-8 of 8

Last Updated: 09/26/2026