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Publications in Genetics
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome
American Journal of Human Genetics
Genetics
ARQiv-HTS, a Versatile Whole-Organism Screening Platform Enabling in Vivo Drug Discovery at High-Throughput Rates
Nature Protocols
Biochemistry
Genetics
Molecular Biology
Estimating the Effectiveness of DPYD Genotyping in Italian Individuals Suffering From Cancer Based on the Cost of Chemotherapy-Induced Toxicity
American Journal of Human Genetics
Genetics
Optimal Integration of Behavioral Medicine Into Clinical Genetics and Genomics
American Journal of Human Genetics
Genetics
Detecting Expansions of Tandem Repeats in Cohorts Sequenced With Short-Read Sequencing Data
American Journal of Human Genetics
Genetics
Human Models Are Needed for Studying Human Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
The Genetic Landscape of Diamond-Blackfan Anemia
American Journal of Human Genetics
Genetics
Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
Genetics
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