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Publications by Christian Kubisch
Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families
Neuron
Neuroscience
Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result From a Defect in the Localized Degradation of Retinoic Acid
American Journal of Human Genetics
Genetics
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
American Journal of Human Genetics
Genetics
The Discovery of a LEMD2-Associated Nuclear Envelopathy With Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
American Journal of Human Genetics
Genetics
Dysfunction of the MDM2/p53 Axis Is Linked to Premature Aging
Journal of Clinical Investigation
Medicine
Germline Loss-Of-Function Variants in the BARD1 Gene Are Associated With Early-Onset Familial Breast Cancer but Not Ovarian Cancer
Breast Cancer Research
Cancer Research
Oncology
A Rare Heterozygous TREM2 Coding Variant Identified in Familial Clustering of Dementia Affects an Intrinsically Disordered Protein Region and Function of TREM2
Human Mutation
Genetics
Clinical Utility Gene Card For: Werner Syndrome
European Journal of Human Genetics
Genetics
Current Knowledge and Recent Insights Into the Genetic Basis of Amyotrophic Lateral Sclerosis
Medizinische Genetik
Genetics
Neurodegenerative Erkrankungen
Medizinische Genetik
Genetics
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