Monique Losekoot

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 68 publications

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.

Journal: Journal of medical genetics

Published: January 20, 2026

Clinical features and growth harmone response in 25 children with duplications in the SHOX region.

Clinical features and growth harmone response in 25 children with duplications in the SHOX region.

Journal: European journal of endocrinology

Published: November 07, 2025

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.

Journal: Brain communications

Published: May 01, 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

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

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 25, 2024

Prevalence of Juvenile-Onset and Pediatric Huntington's Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study.

Prevalence of Juvenile-Onset and Pediatric Huntington's Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study.

Journal: Journal of Huntington's disease

Published: August 09, 2024

IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.

IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.

Journal: Hormone research in paediatrics

Published: April 12, 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

Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data.

Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data.

Journal: Hormone research in paediatrics

Published: September 05, 2023

Long-term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism

Long-term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism

Journal: Journal of clinical research in pediatric endocrinology

Published: January 23, 2023

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.

Journal: Molecular and cellular endocrinology

Published: August 17, 2022

Showing 1-12 of 68

Last Updated: 09/26/2026