Raoul C. Hennekam

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 213 publications

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

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

Published: February 14, 2025

International clinical evidence-based guideline for Kleefstra syndrome.

International clinical evidence-based guideline for Kleefstra syndrome.

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

Published: February 14, 2025

Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C/Y446C variant.

Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C/Y446C variant.

Journal: Gene

Published: March 06, 2024

Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.

Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.

Journal: JBMR plus

Published: January 17, 2024

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: December 21, 2023

Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings.

Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings.

Journal: Journal of molecular endocrinology

Published: September 20, 2023

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.

Journal: Journal of pediatric surgery

Published: June 13, 2023

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Journal: Journal of medical genetics

Published: June 01, 2023

Human embryonic and fetal biobanking: Establishing the Dutch Fetal Biobank and a framework for standardization.

Human embryonic and fetal biobanking: Establishing the Dutch Fetal Biobank and a framework for standardization.

Journal: Developmental cell

Published: April 19, 2023

The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice.

The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice.

Journal: European thyroid journal

Published: April 18, 2023

Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.

Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.

Journal: Diagnostics (Basel, Switzerland)

Published: February 13, 2023

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome.

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome.

Journal: JBMR plus

Published: December 05, 2022

Showing 1-12 of 213

Last Updated: 09/26/2026