Ariane Schmetz

Aachen, NW, Germany

Last Updated: 09/26/2026

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Found 15 publications

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Journal: EMBO molecular medicine
Published: April 25, 2026

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia
Published: October 02, 2025

Cost-Effectiveness of an Insertable Cardiac Arrhythmia Monitor after Non-ST-Elevation Myocardial Infarction in the UK.

Cost-Effectiveness of an Insertable Cardiac Arrhythmia Monitor after Non-ST-Elevation Myocardial Infarction in the UK.

Journal: PharmacoEconomics - open
Published: July 10, 2025

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Journal: European journal of human genetics : EJHG
Published: June 24, 2024

Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome.

Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: June 10, 2024

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Journal: Human genetics
Published: August 28, 2023

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Journal: Molecular genetics & genomic medicine
Published: August 03, 2023

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Journal: European journal of human genetics : EJHG
Published: February 08, 2023

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Journal: Genes
Published: February 03, 2023

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

Journal: Frontiers in cell and developmental biology
Published: August 16, 2022

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

Journal: European journal of human genetics : EJHG
Published: July 07, 2022

Phänotypische Vielfalt bei Varianten im TP63-Gen.

Phänotypische Vielfalt bei Varianten im TP63-Gen.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: June 17, 2022
Showing 1-12 of 15

Last Updated: 09/26/2026