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Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
Published 2025-02-01“…Results The twin adult males displayed comparable phenotypes, characterized by moderate developmental delay, intellectual and language delays, dense hair, craniofacial anomalies, scoliosis, cryptorchidism, hypotonia, behavioral abnormalities, allergic purpura and eczema, and drug allergies. …”
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Psychometric Validation of the German Version of the Rapid Assessment of Physical Activity (RAPA): A Secondary Analysis of Cross‐Sectional Survey Data
Published 2025-01-01“…The Rapid Assessment of Physical Activity (RAPA) questionnaire is a validated brief physical activity screening tool designed for clinical practice. Methods We conducted a psychometric validation of a new German translation of the RAPA by performing a secondary analysis of survey data from 234 former cardiac rehabilitation patients (mean [SD] age 69 ± 11 years, 23% female) in Austria. …”
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Development of a cross-cultural scale on attitudes toward gender and sexual diversity (AGSD)
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