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Publications by Saskia Biskup
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
Cancer Immune Control Needs Senescence Induction by Interferon-Dependent Cell Cycle Regulator Pathways in Tumours
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Delineating the GRIN1 Phenotypic Spectrum
Neurology
Neurology
Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy
Journal of Medical Genetics
Genetics
Ophthalmic Features of Retinitis Pigmentosa in Cohen Syndrome Caused by Pathogenic Variants in the VPS 13B Gene
Acta Ophthalmologica
Medicine
Ophthalmology
Whole Exome Sequencing of Microdissected Splenic Marginal Zone Lymphoma: A Study to Discover Novel Tumor-Specific Mutations
BMC Cancer
Cancer Research
Oncology
Genetics
Two Patients With the Heterozygous R189H Mutation in ACTA2 and Complex Congenital Heart Defects Expands the Cardiac Phenotype of Multisystemic Smooth Muscle Dysfunction Syndrome
American Journal of Medical Genetics, Part A
Genetics
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations
Translational Vision Science and Technology
Ophthalmology
Biomedical Engineering
Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion After Stem Cell Transplantation
Movement Disorders Clinical Practice
Neurology
Diagnostic Applications of Next Generation Sequencing: Working Towards Quality Standards/Diagnostische Anwendung Von Next Generation Sequencing: Auf Dem Weg Zu Qualitätsstandards
LaboratoriumsMedizin
Biochemistry
Medical Laboratory Technology
Clinical Biochemistry
