Hennie T. Bruggenwirth

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 62 publications

Letter to the editor: response on "more on bone microarchitecture and volumetric BMD in men and women with PLS3 gene variants assessed with HR-pQCT".

Letter to the editor: response on "more on bone microarchitecture and volumetric BMD in men and women with PLS3 gene variants assessed with HR-pQCT".

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: November 11, 2025

Author Reply.

Author Reply.

Journal: BJOG : an international journal of obstetrics and gynaecology

Published: May 13, 2025

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Journal: European journal of human genetics : EJHG

Published: March 24, 2025

Clinical variability in individuals with ATR-X syndrome in the Netherlands.

Clinical variability in individuals with ATR-X syndrome in the Netherlands.

Journal: European journal of medical genetics

Published: February 21, 2025

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

Journal: European journal of human genetics : EJHG

Published: February 20, 2025

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 13, 2025

Phenotypic and genetic characteristics of a Dutch cohort of patients with X-linked osteoporosis due to PLS3 genetic variants.

Phenotypic and genetic characteristics of a Dutch cohort of patients with X-linked osteoporosis due to PLS3 genetic variants.

Journal: JBMR plus

Published: January 28, 2025

Increased risk for thoracic aneurysms in female and familial abdominal aortic aneurysm patients.

Increased risk for thoracic aneurysms in female and familial abdominal aortic aneurysm patients.

Journal: Journal of vascular surgery

Published: January 19, 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

Functional analysis of SRY variants in individuals with 46,XY differences of sex development.

Functional analysis of SRY variants in individuals with 46,XY differences of sex development.

Journal: Molecular and cellular endocrinology

Published: November 03, 2024

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Journal: Nature

Published: August 20, 2024

Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature.

Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature.

Journal: Epigenetics

Published: August 16, 2024

Showing 1-12 of 62

Last Updated: 09/26/2026