Hans Scheffer

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 57 publications

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: September 08, 2023

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Journal: European journal of pediatrics

Published: June 02, 2022

Recommendations for whole genome sequencing in diagnostics for rare diseases.

Recommendations for whole genome sequencing in diagnostics for rare diseases.

Journal: European journal of human genetics : EJHG

Published: December 23, 2021

Stepwise ABC system for classification of any type of genetic variant.

Stepwise ABC system for classification of any type of genetic variant.

Journal: European journal of human genetics : EJHG

Published: July 22, 2020

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.

Journal: Molecular therapy. Nucleic acids

Published: May 16, 2019

Genotype-Guided Thiopurine Dosing Does not Lead to Additional Costs in Patients With Inflammatory Bowel Disease.

Genotype-Guided Thiopurine Dosing Does not Lead to Additional Costs in Patients With Inflammatory Bowel Disease.

Journal: Journal of Crohn's & colitis

Published: January 31, 2019

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries.

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries.

Journal: European journal of human genetics : EJHG

Published: June 04, 2018

Patients' beliefs about medicine are associated with early thiopurine discontinuation in patients with inflammatory bowel diseases.

Patients' beliefs about medicine are associated with early thiopurine discontinuation in patients with inflammatory bowel diseases.

Journal: European journal of gastroenterology & hepatology

Published: November 10, 2017

More Dose-dependent Side Effects with Mercaptopurine over Azathioprine in IBD Treatment Due to Relatively Higher Dosing.

More Dose-dependent Side Effects with Mercaptopurine over Azathioprine in IBD Treatment Due to Relatively Higher Dosing.

Journal: Inflammatory bowel diseases

Published: June 24, 2017

Risk factors for thiopurine-induced myelosuppression and infections in inflammatory bowel disease patients with a normal TPMT genotype.

Risk factors for thiopurine-induced myelosuppression and infections in inflammatory bowel disease patients with a normal TPMT genotype.

Journal: Alimentary pharmacology & therapeutics

Published: June 13, 2017

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

Journal: European journal of human genetics : EJHG

Published: February 10, 2017

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Journal: European journal of human genetics : EJHG

Published: September 26, 2016

Showing 1-12 of 57

Last Updated: 09/26/2026