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Publications in Genetics
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
American Journal of Human Genetics
Genetics
This Month in Genetics
American Journal of Human Genetics
Genetics
The Roles of FMRP-Regulated Genes in Autism Spectrum Disorder: Single- And Multiple-Hit Genetic Etiologies
American Journal of Human Genetics
Genetics
Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD
American Journal of Human Genetics
Genetics
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-Regional Intolerance
American Journal of Human Genetics
Genetics
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
Genetics
Discovery of Allele-Specific Protein-Rna Interactions in Human Transcriptomes
American Journal of Human Genetics
Genetics
Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
American Journal of Human Genetics
Genetics
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