Stephanie Kleinle

Munich, BY 80335, Germany

Last Updated: 09/26/2026

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Found 24 publications

Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.

Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.

Journal: European journal of endocrinology

Published: August 04, 2025

Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.

Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.

Journal: Neurology. Genetics

Published: September 26, 2024

Quality assurance within the context of genome diagnostics (a german perspective).

Quality assurance within the context of genome diagnostics (a german perspective).

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: June 06, 2024

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Journal: Journal of neuromuscular diseases

Published: July 10, 2023

Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate.

Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate.

Journal: Neuropediatrics

Published: January 24, 2023

Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.

Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.

Journal: Brain : a journal of neurology

Published: March 31, 2022

Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?

Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?

Journal: Journal of neurology

Published: August 12, 2021

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.

Journal: BMC medical genomics

Published: November 25, 2020

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.

Journal: British journal of cancer

Published: December 17, 2019

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Journal: Neurology. Genetics

Published: September 08, 2019

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.

Journal: Molecular genetics & genomic medicine

Published: August 09, 2018

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Journal: Scientific reports

Published: June 20, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026