Yvonne Hofstee-Hilhorst

Leiden, ZH 2300RC, Netherlands

Last Updated: 09/26/2026

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Found 41 publications

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025

Author Reply.

Author Reply.

Journal: BJOG : an international journal of obstetrics and gynaecology
Published: May 13, 2025

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.

Journal: HGG advances
Published: February 26, 2025

Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study.

Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study.

Journal: BJOG : an international journal of obstetrics and gynaecology
Published: December 05, 2024

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Journal: Circulation. Genomic and precision medicine
Published: April 16, 2024

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 12, 2023

Growth of the aortic root in children and young adults with Marfan syndrome.

Growth of the aortic root in children and young adults with Marfan syndrome.

Journal: Open heart
Published: July 21, 2022

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.

Journal: American journal of medical genetics. Part A
Published: July 11, 2022

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 15, 2021

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Journal: Brain : a journal of neurology
Published: October 08, 2021

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Journal: Journal of medical genetics
Published: November 29, 2020
Showing 1-12 of 41

Last Updated: 09/26/2026