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Academic Journal

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Subjects: Medical Clinic; Institute of Medical Genetics; 610 Medicine & health

  • Source: Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem;

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Academic Journal

Applying a novel kinomics approach to study decidualization and the effects of antigestagens using a canine model

Subjects: Institute of Veterinary Anatomy; 570 Life sciences; biology

  • Source: De Geyter, Isabelle; Kowalewski, Mariusz P; Tavares Pereira, Miguel (2024). Applying a novel kinomics approach to study decidualization and the effects of antigestagens using a canine model.

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Academic Journal

Molecular pathology in breast disease: diagnostic, prognostic, and therapeutic tools

Subjects: Institute of Pathology and Molecular Pathology; 610 Medicine & health; Cell Biology

  • Source: Varga, Zsuzsanna; Maccio, Umberto (2024). Molecular pathology in breast disease: diagnostic, prognostic, and therapeutic tools. Virchows Archiv, 484(2):247-261.

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Academic Journal

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

Subjects: Medical Clinic; Institute of Medical Genetics; Adaptive Brain Circuits in Development and Learning (AdaBD)

  • Source: Clara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan,

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Academic Journal

The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease

Subjects: Medical Clinic; Institute of Psychology; 570 Life sciences

  • Source: Truninger, Moritz Ilan; Werner, Helene; Landolt, Markus Andreas; Hahn, Andreas; Hennermann, Julia B; Lagler, Florian B; Möslinger, Dorothea; Pfrimmer, Charlotte; Rohrbach, Marianne; Huemer, Martina

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Academic Journal

Haptoglobin Attenuates Cerebrospinal Fluid Hemoglobin-Induced Neurological Deterioration in Sheep

Subjects: Clinic and Policlinic for Internal Medicine; Epidemiology; Biostatistics and Prevention Institute (EBPI)

  • Source: Thomson, Bart R; Schwendinger, Nina; Beckmann, Katrin; Gentinetta, Thomas; Couto, Daniel; Wymann, Sandra; Verdon, Valérie; Buzzi, Raphael M; Akeret, Kevin; Kronen, Peter W; Weinberger, Eva M; Held,

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Academic Journal

Robust compression and detection of epileptiform patterns in ECoG using a real-time spiking neural network hardware framework

Subjects: Clinic for Neurosurgery; Medical Clinic; Institute of Neuroinformatics

  • Source: Costa, Filippo; Schaft, Eline V; Huiskamp, Geertjan; Aarnoutse, Erik J; Van't Klooster, Maryse A; Krayenbühl, Niklaus; Ramantani, Georgia; Zijlmans, Maeike; Indiveri, Giacomo; Sarnthein, Johannes

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Academic Journal

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

Subjects: Medical Clinic; Institute of Medical Genetics; 610 Medicine & health

  • Source: Yang, Fang; Begemann, Anaïs; Reichhart, Nadine; Haeckel, Akvile; Steindl, Katharina; Schellenberger, Eyk; Sturm, Ronja Fini; Barth, Magalie; Bassani, Sissy; Boonsawat, Paranchai; Courtin, Thomas;

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Academic Journal

A health promotion perspective on One Health

Subjects: Chair in Veterinary Epidemiology; 570 Life sciences; biology

  • Source: de Leeuw, Evelyne; Kickbusch, Ilona; Rüegg, Simon R (2024). A health promotion perspective on One Health. Canadian Journal of Public Health. Revue Canadienne de Santé Publique, 115:271-275.

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