Hermine A. Van Duyvenvoorde

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 45 publications

Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs.

Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs.

Journal: Public health genomics

Published: January 07, 2026

Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy: A 3-Year Natural History Study.

Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy: A 3-Year Natural History Study.

Journal: Neurology

Published: September 05, 2025

Identification of pathogenic ACAN variants in healthy children with normal height and advanced bone age.

Identification of pathogenic ACAN variants in healthy children with normal height and advanced bone age.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 22, 2025

Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.

Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.

Journal: Neuromuscular disorders : NMD

Published: May 28, 2025

Growth hormone treatment adjusted for growth hormone sensitivity in idiopathic short stature.

Growth hormone treatment adjusted for growth hormone sensitivity in idiopathic short stature.

Journal: European journal of endocrinology

Published: April 07, 2025

Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data.

Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 10, 2025

Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.

Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.

Journal: Clinical endocrinology

Published: January 09, 2025

Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.

Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.

Journal: Journal of clinical immunology

Published: December 17, 2024

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 25, 2024

The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.

The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.

Journal: Journal of neuromuscular diseases

Published: July 20, 2024

IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.

IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.

Journal: Hormone research in paediatrics

Published: April 12, 2024

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Journal: Hormone research in paediatrics

Published: February 13, 2024

Showing 1-12 of 45

Last Updated: 09/26/2026