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Publications in Genetics
HIPAA’s Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights
American Journal of Human Genetics
Genetics
Mutation of Membrane Type-1 Metalloproteinase, MT1-MMP, Causes the Multicentric Osteolysis and Arthritis Disease Winchester Syndrome
American Journal of Human Genetics
Genetics
Studying Primary Tumor–associated Fibroblast Involvement in Cancer Metastasis in Mice
Nature Protocols
Biochemistry
Genetics
Molecular Biology
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
American Journal of Human Genetics
Genetics
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
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
ASHG Perspectives: A New Voice for ASHG
American Journal of Human Genetics
Genetics
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
American Journal of Human Genetics
Genetics
A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease
American Journal of Human Genetics
Genetics
This Month in the Journal
American Journal of Human Genetics
Genetics
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