Lotte Kleinendorst

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 46 publications

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy.

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy.

Journal: Journal of internal medicine

Published: September 02, 2026

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Journal: Human genetics

Published: February 10, 2026

Melanocortin 3 Receptors Do Not Specifically Localize to Primary Cilia in Cultured Human and Rodent Neurons.

Melanocortin 3 Receptors Do Not Specifically Localize to Primary Cilia in Cultured Human and Rodent Neurons.

Journal: Cell biochemistry and function

Published: November 14, 2025

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

Journal: American journal of medical genetics. Part A

Published: September 09, 2025

Generation of a human induced pluripotent stem cell line (iPSC) from a patient with Clark-Baraitser Syndrome.

Generation of a human induced pluripotent stem cell line (iPSC) from a patient with Clark-Baraitser Syndrome.

Journal: Stem cell research

Published: September 03, 2025

Epidemiological and clinical data from the European Lipodystrophy Registry.

Epidemiological and clinical data from the European Lipodystrophy Registry.

Journal: European journal of endocrinology

Published: August 02, 2025

Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome.

Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome.

Journal: Scientific reports

Published: December 08, 2024

Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.

Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.

Journal: Obesity (Silver Spring, Md.)

Published: September 16, 2024

A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature.

A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature.

Journal: European journal of medical genetics

Published: September 16, 2024

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

Journal: HGG advances

Published: September 05, 2024

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review.

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review.

Journal: European journal of medical genetics

Published: April 12, 2024

IMPROVE 2022 International Meeting on Pathway-Related Obesity: Vision of Excellence.

IMPROVE 2022 International Meeting on Pathway-Related Obesity: Vision of Excellence.

Journal: Clinical obesity

Published: February 22, 2024

Showing 1-12 of 46

Last Updated: 09/26/2026