Publications by authors named "S Kleinle"

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Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.
Marie Helene Schernthaner-Reiter, Stefan Riedl, Barbara Obermayer-Pietsch, Michael Krebs, Greisa Vila, Stephanie Kleinle

Eur J Endocrinol· October 2025

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Updated Structure of Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.
Martin Wendlandt, Hannes Erdmann, Simone Rost, Morghan C Lucas, Kerstin Becker, Stephanie Kleinle

Neurol Genet· February 2025

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A History of Child Abuse Pediatrics: Training, Research, and Clinical Diagnosis.
Sarah Kleinle, Hannah Ngo, Amy P Goldberg, Rachel Silliman Cohen

R I Med J (2013)· November 2023

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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Stephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, Tobias Wohlfrom, Stefanie Gehling

J Neuromuscul Dis· September 2023

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Quality assurance within the context of genome diagnostics (a german perspective).
Kraft Florian, Anna Benet-Pagès, Daniel Berner, Anna Teubert, Sebastian Eck, Stephanie Kleinle

Med Genet· June 2023

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