Jolanda H. Schieving

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 48 publications

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 27, 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Journal: American journal of human genetics

Published: March 11, 2026

ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS).

ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS).

Journal: European journal of human genetics : EJHG

Published: November 25, 2025

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.

Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 20, 2025

Consensus-based follow-up and treatment registry for GNAO1-associated disorder.

Consensus-based follow-up and treatment registry for GNAO1-associated disorder.

Journal: Developmental medicine and child neurology

Published: April 18, 2025

Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients.

Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients.

Journal: Clinical genetics

Published: February 03, 2025

Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk.

Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk.

Journal: Familial cancer

Published: January 20, 2025

Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome

Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome

Journal: Journal of clinical research in pediatric endocrinology

Published: August 08, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Showing 1-12 of 48

Last Updated: 09/26/2026