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Clinical Snapshot

Unilateral Chest Wall Hypoplasia and Ipsilateral Upper Limb Anomalies

Dtsch Arztebl Int 2026; 123: 302. DOI: 10.3238/arztebl.m2026.0028
Lai, B
Genetics, Orthopedics
Research letter

Measures Following Abnormal Non-Invasive Prenatal Testing (NIPT) for Trisomies 13, 18, and 21

A Retrospective Cohort Study Using Billing Data of the Barmer Health Insurance Company
Dtsch Arztebl Int 2026; 123: 248-9. DOI: 10.3238/arztebl.m2026.0036
Hertle, D; Wende, D; Schleußner, E
Genetics, Obstetrics and Gynecology, Public Health / Epidemiology
Original article

Exome and Genome Sequencing for the Diagnosis of Rare Diseases

Dtsch Arztebl Int 2026; 123: 184-8. DOI: 10.3238/arztebl.m2026.0030
Elbracht, M; Krause, J; Mattern, L; Güzel, N; Lischka, A; Suh, D S J; Knopp, C; Bourgeois, M G; Beijer, D; D’Augello, S; Haag, N; Rüdebusch, J; Perchalla, E; Lausberg, E; Eggermann, K; Meyer, R; Kraft, F; Begemann, M; Eggermann, T; Kurth, I
Genetics, Internal Medicine
Original article

Familial Hypercholesterolemia: Prevalence and Discrepancy between Genotype and Phenotype

Findings of the Population-based Hamburg City Health Study
Dtsch Arztebl Int 2025; 122: 511-6. DOI: 10.3238/arztebl.m2025.0110
Riccio, C; Arnold, N; Koliopanos, G; Link, V; Guo, L; Betschart, R O; Zeller, T; Blankenberg, S; Ziegler, A; Twerenbold, R
Cardiology, Genetics, Internal Medicine
Research letter

Pharmacogenetic Testing for DPD Deficiency

Four and a Half Years’ Experience in a Large German Laboratory
Dtsch Arztebl Int 2025; 122: 445-6. DOI: 10.3238/arztebl.m2025.0092
Pretzsch, T; Schwab, M; Blau, O; Wörmann, B; Stintzing, S; Bullinger, L; Burmeister, T
Genetics, Oncology, Pharmacology and Toxicology
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