Yvonne C. Hendriks

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 25 publications

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Journal: Genome medicine

Published: November 04, 2025

Growth hormone treatment adjusted for growth hormone sensitivity in idiopathic short stature.

Growth hormone treatment adjusted for growth hormone sensitivity in idiopathic short stature.

Journal: European journal of endocrinology

Published: April 07, 2025

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Journal: European journal of human genetics : EJHG

Published: March 24, 2025

Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data.

Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 10, 2025

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Journal: American journal of human genetics

Published: March 18, 2024

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Journal: Hormone research in paediatrics

Published: February 13, 2024

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Journal: European journal of medical genetics

Published: July 07, 2022

Duration of rectal colonization with extended-spectrum beta-lactamase-producing Escherichia coli: results of an open, dynamic cohort study in Dutch nursing home residents (2013-2019).

Duration of rectal colonization with extended-spectrum beta-lactamase-producing Escherichia coli: results of an open, dynamic cohort study in Dutch nursing home residents (2013-2019).

Journal: Antimicrobial resistance and infection control

Published: December 24, 2021

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.

Journal: European journal of endocrinology

Published: June 09, 2021

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Journal: Clinical genetics

Published: September 30, 2019

Variable workup calls for guideline development for type 2A hereditary haemochromatosis.

Variable workup calls for guideline development for type 2A hereditary haemochromatosis.

Journal: The Netherlands journal of medicine

Published: October 27, 2018

Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome.

Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome.

Journal: Hormone research in paediatrics

Published: January 25, 2016

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Last Updated: 09/26/2026