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American Journal of Human Genetics|August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signalingParanchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
American Journal of Human Genetics|May 14, 2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effectFang Yang, Anais Begemann, Nadine Reichhart, et al.
Biochemistry and Biophysics Reports|December 16, 2025
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in DrosophilaFranz Müller, Sonja Neuser, Gaurav Shrestha, et al.
Molecular Psychiatry|May 26, 2018
Violent aggression predicted by multiple pre-adult environmental hitsMarina Mitjans, Jan Seidel, Martin Begemann, et al.
The Journal of Clinical Investigation|May 4, 2021
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammationEva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, et al.
Journal of Medical Genetics|March 26, 2018
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringMatthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.
Nature Communications|June 16, 2021
Lasp1 regulates adherens junction dynamics and fibroblast transformation in destructive arthritisDenise Beckmann, Anja Römer-Hillmann, Annika Krause, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresMarkus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
BMC Psychiatry|November 12, 2010
The cross-sectional GRAS sample: a comprehensive phenotypical data collection of schizophrenic patientsKatja Ribbe, Heidi Friedrichs, Martin Begemann, et al.
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