Jiddeke M. Van De Kamp
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 44 publications
USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.
Journal: Clinical genetics
Published: May 06, 2026
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
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.
Journal: American journal of human genetics
Published: June 27, 2025
Does a kidney stone culture make sense? The findings of microbiological cultures of kidney stones and correlation with stone composition, preoperative urine testing and postoperative SIRS.
Journal: World journal of urology
Published: April 30, 2025
AUTS2-related syndrome: Insights from a large European cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 28, 2024
Sulfate: a neglected (but potentially highly relevant) anion.
Journal: Essays in biochemistry
Published: January 29, 2024
Dodecyl creatine ester therapy: from promise to reality.
Journal: Cellular and molecular life sciences : CMLS
Published: January 18, 2024
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Journal: Human genetics
Published: October 18, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 28, 2023
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
Journal: JIMD reports
Published: October 19, 2022
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
Journal: Clinical genetics
Published: June 16, 2022
SLC26A1 is a major determinant of sulfate homeostasis in humans.
Journal: The Journal of clinical investigation
Published: May 23, 2022
Last Updated: 09/26/2026