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Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions

2021 . Kehrer-Sawatzki, Hildegard | Cooper, David N.

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

2021 . Buelow, Markus | Süßmuth, David | Smith, Laurie D. | Aryani, Omid | CASTIGLIONI, CLAUDIA | Stenzel, Werner | Bertini, Enrico | Schuelke, Markus | Knierim, Ellen

Preadult polytoxicomania—strong environmental underpinnings and first genetic hints

2021 . Steixner-Kumar, Agnes A. | Daguano Gastaldi, Vinicius | Seidel, Jan | Rosenberger, Albert | Begemann, Martin | Ehrenreich, Hannelore

Genetically Determined Chronic Low-Grade Inflammation and Hundreds of Health Outcomes in the UK Biobank and the FinnGen Population: A Phenome-Wide Mendelian Randomization Study

2021 . Si, Shucheng | Li, Jiqing | Tewara, Marlvin Anemey | Xue, Fuzhong

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males