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Search for publications relevant for "human phenotypes"
human phenotypes
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publication
The Human Phenotype Ontology in 2024: phenotypes around the world
2024 |
Second Faculty of Medicine
publication
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
2019 |
Second Faculty of Medicine
publication
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
2017 |
Second Faculty of Medicine
publication
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
2021 |
First Faculty of Medicine
publication
Diurnal and seasonal differences in cardiopulmonary response to exercise in morning and evening chronotypes
2021 |
Faculty of Science, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023 |
Second Faculty of Medicine