Hugoline G. De Haan

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 30 publications

Generation of the human induced pluripotent stem cell (hiPSC) line AUMCi015-A from a heterozygous carrier of the LMNA p.Q493X rare pathogenic variant.

Generation of the human induced pluripotent stem cell (hiPSC) line AUMCi015-A from a heterozygous carrier of the LMNA p.Q493X rare pathogenic variant.

Journal: Stem cell research
Published: December 04, 2025

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.

Journal: Genes
Published: March 18, 2024

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Journal: American journal of human genetics
Published: October 28, 2021

The trans-ancestral genomic architecture of glycemic traits.

The trans-ancestral genomic architecture of glycemic traits.

Journal: Nature genetics
Published: July 07, 2020

Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

Journal: Circulation
Published: December 28, 2018

Associations of autozygosity with a broad range of human phenotypes.

Associations of autozygosity with a broad range of human phenotypes.

Journal: Nature communications
Published: November 01, 2018

Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma.

Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma.

Journal: Blood
Published: July 09, 2018

Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.

Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.

Journal: American journal of human genetics
Published: July 01, 2018

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

Journal: Nature genetics
Published: June 29, 2018

Correction to: Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study.

Correction to: Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study.

Journal: Human genetics
Published: May 21, 2018

A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.

A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.

Journal: Blood
Published: May 08, 2018

Genetic determinants of activity and antigen levels of contact system factors.

Genetic determinants of activity and antigen levels of contact system factors.

Journal: Journal of thrombosis and haemostasis : JTH
Published: April 02, 2018
Showing 1-12 of 30

Last Updated: 09/26/2026