Hermine E. Knol-Veenstra

Groningen, GR, Netherlands

Last Updated: 09/26/2026

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Found 32 publications

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype.

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype.

Journal: American journal of medical genetics. Part A

Published: April 18, 2025

Natural history of adults with KBG syndrome: A physician-reported experience.

Natural history of adults with KBG syndrome: A physician-reported experience.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 31, 2024

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.

Journal: American journal of medical genetics. Part A

Published: April 04, 2023

A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.

A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.

Journal: Bone reports

Published: March 10, 2023

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.

Journal: Molecular syndromology

Published: September 07, 2022

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Journal: American journal of human genetics

Published: November 05, 2021

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Journal: European journal of human genetics : EJHG

Published: May 06, 2021

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Journal: American journal of human genetics

Published: April 06, 2021

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Journal: American journal of human genetics

Published: January 28, 2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Journal: American journal of human genetics

Published: December 20, 2020

Genotype-phenotype correlation at codon 1740 of SETD2.

Genotype-phenotype correlation at codon 1740 of SETD2.

Journal: American journal of medical genetics. Part A

Published: October 24, 2019

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Journal: American journal of human genetics

Published: September 07, 2019

Showing 1-12 of 32

Last Updated: 09/26/2026