Jacqueline C. Goos
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 20 publications
Angor abdominalis caused by a pancreatic arteriovenous malformation: a case report.
Journal: Acta gastro-enterologica Belgica
Published: July 08, 2026
A Probable Case of Cerebral Amyloid Angiopathy-Related Inflammation Temporally Associated with Abemaciclib: A Case Report.
Journal: Case reports in oncology
Published: July 16, 2025
Diagnostic yield of endoscopic and EUS-guided biopsy techniques in subepithelial lesions of the upper GI tract: a systematic review.
Journal: Gastrointestinal endoscopy
Published: November 06, 2023
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 02, 2023
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 27, 2022
Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
Journal: European journal of orthodontics
Published: August 23, 2021
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
Journal: European journal of human genetics : EJHG
Published: February 17, 2021
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Journal: Frontiers in immunology
Published: September 12, 2019
Genetic Causes of Craniosynostosis: An Update.
Journal: Molecular syndromology
Published: April 13, 2019
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
Journal: Human molecular genetics
Published: February 01, 2019
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Journal: American journal of human genetics
Published: December 07, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: February 14, 2018
Last Updated: 09/26/2026